1,594 results match your criteria European Journal of Medical Genetics [Journal]


ATM mutation spectrum in Russian children with ataxia-telangiectasia.

Eur J Med Genet 2019 Feb 14. Epub 2019 Feb 14.

St.-Petersburg Pediatric Medical University, St.-Petersburg, Russia; N.N. Petrov Institute of Oncology, St.-Petersburg, Russia; I.I. Mechnikov North-Western Medical University, St.-Petersburg, Russia; St.-Petersburg State University, St.-Petersburg, Russia.

Ataxia-telangiectasia (AT) is a severe autosomal recessive orphan disease characterized by a number of peculiar clinical manifestations. Genetic diagnosis of AT is complicated due to a large size of the causative gene, ATM. We used next-generation sequencing (NGS) technology for the ATM analysis in 17 children with the clinical diagnosis of AT. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.02.003DOI Listing
February 2019

Antiepileptic therapy approaches in KCNQ2 related epilepsy: A systematic review.

Eur J Med Genet 2019 Feb 13. Epub 2019 Feb 13.

Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Dr. von Haunersches Children's Hospital, LMU Munich, Lindwurmstraße4, 80337, Munich, Germany; Comprehensive Epilepsy Center for Children, Adolescents and Adults, LMU Munich, Lindwurmstraße 4, 80337, Munich, Germany. Electronic address:

Background: KCNQ2 related disorders comprise both benign seizure disorders and early onset epileptic encephalopathies. Especially within the latter group, patients suffer from refractory seizures to standard antiepileptic drugs and developmental delay. Besides the hope of personalized medical approaches to treat the recently unraveled large amount of genetic channelopathies, there are sparse systematic data on treatment responses in KCNQ2 related epilepsy in larger cohorts. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183066
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http://dx.doi.org/10.1016/j.ejmg.2019.02.001DOI Listing
February 2019
1 Read

Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum.

Eur J Med Genet 2019 Feb 12. Epub 2019 Feb 12.

Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran. Electronic address:

RIN2 syndrome also known as MACS syndrome is a rare autosomal recessive connective tissue disorder caused by RIN2 mutations and is accompanied by following clinical features: macrocephaly, coarsening of facial features, downward slanting palpebral fissures, Puffy droopy eyelids, full everted lips, soft redundant skin especially in face, gum hypertrophy, irregular dentition, sparse scalp hair, skeletal problems, joint hypermobility and scoliosis. RIN2 gene encodes the RAS and RAB interactor 2 and biallelic mutations in this gene cause cell trafficking dysfunction. Here we reported the eleventh patient of RIN2 syndrome in a 4 yr-old boy, from Tehran, Iran as the youngest reported patient so far. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.02.002DOI Listing
February 2019

MEIS2 gene is responsible for intellectual disability, cardiac defects and a distinct facial phenotype.

Eur J Med Genet 2019 Feb 5. Epub 2019 Feb 5.

Medical Genetics, University of Siena, Siena, Italy; Genetica Medica, Azienda Ospedaliera Universitaria Senese, Siena, Italy.

Myeloid ecotropic insertion site 2 (MEIS2) gene, encoding a homeodomain-containing transcription factor, has been recently related to syndromic intellectual disability with cleft palate and cardiac defects. Here, we present a male patient, aged 10, with cardiac defects, intellectual disability, facial dysmorphisms and gastroesophageal reflux. Whole exome sequencing revealed a novel de novo nonsense mutation in the MEIS2 gene. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.017DOI Listing
February 2019
2 Reads

A novel RAD21 mutation in a boy with mild Cornelia de Lange presentation: Further delineation of the phenotype.

Eur J Med Genet 2019 Feb 2. Epub 2019 Feb 2.

Medical Cytogenetics and Molecular Genetics Laboratory, IRCCS Istituto Auxologico Italiano, via Ariosto 13, 20145, Milan, Italy.

Cornelia de Lange syndrome is a rare autosomal dominant or X-linked developmental disorder characterized by characteristic facial dysmorphism, intellectual disability, growth retardation, upper limb and multiorgan anomalies. Causative mutations have been identified in five genes coding for the cohesion complex structure components or regulatory elements. Among them, RAD21 is associated with a milder phenotype. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.010DOI Listing
February 2019
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WDR11 is another causative gene for coloboma, cardiac anomaly and growth retardation in 10q26 deletion syndrome.

Eur J Med Genet 2019 Jan 31. Epub 2019 Jan 31.

Department of Pediatrics and Developmental Biology, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku, Tokyo, 113-8510, Japan. Electronic address:

10q26 deletion syndrome is caused by a rare chromosomal abnormality, and patients with this syndrome present with an extensive and heterogeneous phenotypic spectrum. Several genes, such as EMX2 and FGFR2, were identified as the cause genital anomalies and facial dysmorphism in 10q26 deletion syndrome. However, the critical region for 10q26 deletion syndrome is not determined and the precise relationships between the causative genes and the phenotypes are still controversial. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.016DOI Listing
January 2019

De-novo mutations in patients with chronic ultra-refractory epilepsy with onset after age five years.

Eur J Med Genet 2019 Jan 31. Epub 2019 Jan 31.

Department of Molecular and Cellular Therapeutics, Royal College of Surgeons in Ireland, Ireland; The FutureNeuro Research Centre, RCSI, Dublin, Ireland. Electronic address:

We set out to investigate whether a de-novo paradigm could explain genetic causes of chronic ultra-refractory epilepsy, with onset later than the typical age for the epileptic encephalopathies. We performed exome sequencing on nine adult patients with MRI-negative epilepsy and no preceding intellectual disability. All had an onset of seizures after five years old and had chronic ultra-refractory epilepsy defined here as having failed more than six anti-epileptic drugs and currently experiencing ≥4 disabling seizures per month. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.015DOI Listing
January 2019
2 Reads

Novel variant in the KCNK9 gene in a girl with Birk Barel syndrome.

Eur J Med Genet 2019 Jan 25. Epub 2019 Jan 25.

Department of Paediatric Neurology, 2nd Faculty of Medicine, Charles University in Prague and Motol University Hospital, Czech Republic.

Birk Barel syndrome also known as KCNK9 imprinting syndrome is a rare developmental disorder associated with a loss-of-function variant in KCNK9, an imprinted gene with maternal expression on the 8th chromosome encoding the TASK3 (TWIK-related acidity inhibited K + -channel 3). Only two variants of KCNK9 have been associated with this condition before, both of them leading to the same amino-acid exchange p.Gly236Arg (Barel ´ 2008, Graham ´ 2016). Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.009DOI Listing
January 2019

Biallelic loss of function variants in ATP1A2 cause hydrops fetalis, microcephaly, arthrogryposis and extensive cortical malformations.

Eur J Med Genet 2019 Jan 25. Epub 2019 Jan 25.

Mendelics Genomic Analysis, CEP 04013-000, São Paulo, SP, Brazil; Neurogenetics, Neurology Department, Hospital das Clínicas da Universidade de São Paulo, São Paulo, SP, Brazil. Electronic address:

The Na/K- ATPase acts as an ion pump maintaining the essential plasma membrane potential in all mammalian cell types, and is essential for many cellular functions. There are four α isoforms (α1, α2, α3 and α4) with distinct expression patterns, kinetic properties and substrate affinity. The α2-isoform is encoded by ATP1A2 and evidence supports its utmost importance in Cl homeostasis in neurons, and in the function of respiratory neurons at birth. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.014DOI Listing
January 2019

Expanded PCH1D phenotype linked to EXOSC9 mutation.

Eur J Med Genet 2019 Jan 25. Epub 2019 Jan 25.

Pediatric Department, Latifa Hospital, Dubai Health Authority, P.O.Box 4115, Dubai, United Arab Emirates.

Pontocerebellar Hypoplasia type 1 is a rare heterogeneous neurodegenerative disorder with multiple subtypes linked to dysfunction of the exosome complex. Patients with mutations in exosome subunits exhibit a generally lethal phenotype characterized by cerebellar and pontine hypoplasia in association with spinal motor neuropathy and multiple systemic and neurologic features. Recently, two variants in the novel PCH1 associated protein EXOSC9 p. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.012DOI Listing
January 2019
2 Reads
1.486 Impact Factor

Small interstitial 9p24.3 deletions principally involving KANK1 are likely benign copy number variants.

Eur J Med Genet 2019 Jan 23. Epub 2019 Jan 23.

Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia; Victorian Clinical Genetics Service, Murdoch Childrens Research Institute, Royal Children's Hospital, Melbourne, Australia; Bruce Lefroy Centre for Genetic Health Research, Murdoch Childrens Research Institute, Melbourne, Australia.

A small heterozygous deletion involving KANK1 was originally reported in 2005 to cause cerebral palsy in one large Israeli family of Jewish Moroccan origin. There were nine affected children over two generations to five unaffected fathers. All of these children had congenital hypotonia that evolved into spastic quadriplegia over the first year of life, along with intellectual impairment and brain atrophy. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.008DOI Listing
January 2019
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Whole-exome sequencing identifies rare compound heterozygous mutations in the MSTO1 gene associated with cerebellar ataxia and myopathy.

Eur J Med Genet 2019 Jan 24. Epub 2019 Jan 24.

Department of Pediatrics, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China. Electronic address:

Human MSTO1 is involved in the regulation of mitochondrial distribution and morphology and its unregulated expression leads to mitochondrial disorder. Despite its significance for mitochondrial functions, human MSTO1 gene is rarely studied before 2017. As of late, MSTO1 mutations have been reported to cause clinical manifestations such as myopathy, cerebellar atrophy and ataxia, motor developmental delay, and pigmentary retinopathy. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.013DOI Listing
January 2019
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Primary coenzyme Q10 Deficiency-6 (COQ10D6): Two siblings with variable expressivity of the renal phenotype.

Eur J Med Genet 2019 Jan 22. Epub 2019 Jan 22.

Istanbul University, Istanbul Faculty of Medicine, Pediatric Nephrology Department, Istanbul, Turkey.

Primary coenzyme Q10 deficiency-6 (COQ10D6) is a rare autosomal recessive disorder caused by COQ6 mutations. The main clinical manifestations are infantile progressive nephrotic syndrome (NS) leading to end-stage renal disease and sensorineural deafness. A 7-year-old girl was diagnosed with steroid-resistant NS (SRNS) and an audiological work-up revealed bilateral sensorineural deafness. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.011DOI Listing
January 2019
2 Reads

Heterotopic ossifications and Charcot joints: Congenital insensitivity to pain with anhidrosis (CIPA) and a novel NTRK1 gene mutation.

Eur J Med Genet 2019 Jan 21. Epub 2019 Jan 21.

Institute of Human Genetics, Medical Center of the Johannes Gutenberg University Mainz, University of Mainz, Germany.

Congenital insensitivity to pain with anhidrosis (CIPA), also known as hereditary sensory and autonomic neuropathy type IV (HSAN-IV), is a rare and severe autosomal recessive disorder. We report on an adult female patient whose clinical findings during childhood were not recognized as CIPA. There was neither complete anhidrosis nor a recognizable sensitivity to heat. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.003DOI Listing
January 2019
2 Reads

Oligo-astrocytoma in LZTR1-related Noonan syndrome.

Eur J Med Genet 2019 Jan 18. Epub 2019 Jan 18.

Department of Genetics, APHP-Robert DEBRE University Hospital, Denis Diderot School of Medicine, Paris University, France; INSERM UMR1141, Paris, France. Electronic address:

Mutations in LZTR1, already known to be causal in familial schwannomatosis type 2, have been recently involved in a small proportion of patients with autosomal dominant and autosomal recessive Noonan syndrome. LZTR1 is also a driver gene in non syndromal glioblastoma. We report a 26-year-old patient with typical Noonan syndrome, and the dominantly transmitted c. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.007DOI Listing
January 2019
3 Reads

Understanding attitudes and behaviors towards cell-free DNA-based noninvasive prenatal testing (NIPT): A survey of European health-care providers.

Eur J Med Genet 2019 Jan 14. Epub 2019 Jan 14.

Prenatal Genetic Diagnosis Unit, Genetic Institute, Tel Aviv Medical Center, Tel Aviv, Israel. Electronic address:

Cell-free DNA-based noninvasive prenatal testing (cfDNA) is a relatively new screening tool that analyzes cfDNA circulating in maternal plasma to screen for aneuploidies. Since its introduction, cfDNA has been rapidly adopted by health care providers (HCPs). This rapid adoption, as well as progressive developments in the technology, requires professional societies to continuously update their guidelines to indicate the broadening scope both in terms of test indications and patient populations for whom it has become the appropriate primary test. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183071
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http://dx.doi.org/10.1016/j.ejmg.2019.01.006DOI Listing
January 2019
6 Reads

Pediatric endocrinology through syndromes.

Eur J Med Genet 2019 Jan 14. Epub 2019 Jan 14.

Institute for Maternal and Child Health, IRCCS Burlo Garofolo, Trieste, Italy; University of Trieste, Trieste, Italy.

In everyday practice, a pediatric endocrinologist will face a variety of different endocrine issues (such as short or tall stature, dysthyroidism, abnormal pubertal timing or impaired glucose metabolism), which relevantly contribute to the global care of a number of syndromic conditions. On the other hand, the presence of endocrine features may assist in the diagnostic process, leading to final diagnosis of a syndromic disorder. The intention of this review is to provide a referenced overview of different genetic syndromes characterized by endocrine features, and to present a possible classification, based on whether the endocrinopathy or the syndrome is typically recognized first. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.004DOI Listing
January 2019
3 Reads

A de novo TBX3 mutation presenting as dorsalization of the little fingers: A forme fruste phenotype of ulnar-mammary syndrome.

Eur J Med Genet 2019 Jan 14. Epub 2019 Jan 14.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia. Electronic address:

Ulnar-mammary syndrome (UMS) is a rare syndromic limb malformation caused by heterozygous mutations in TBX3. The name highlights the two commonly involved body parts i.e. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.005DOI Listing
January 2019

Renal disease in Cockayne syndrome.

Eur J Med Genet 2019 Jan 7. Epub 2019 Jan 7.

Service de Pédiatrie 1, Hôpital de Hautepierre, Hôpitaux Universitaires de Strasbourg, Strasbourg, France. Electronic address:

Background: Cockayne Syndrome (CS) is a rare autosomal recessive multi-systemic disorder, characterized; by developmental delay, microcephaly, severe growth failure and sensorial impairment. Renal complications have been reported but remain underinvestigated. The objective of this study was to perform a review of renal disease in a cohort of CS patients. Read More

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http://dx.doi.org/10.1016/j.ejmg.2019.01.002DOI Listing
January 2019
1 Read

Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder.

Eur J Med Genet 2019 Jan 4. Epub 2019 Jan 4.

Dongguan Maternal and Child Health Care Hospital, Dongguan, 523120, China; Dongguan Institute of Reproductive and Genetic Research, Dongguan, 523120, China. Electronic address:

Xia-Gibbs syndrome is a rare genetic condition characterized by intellectual disability, growth retardation, delayed psychomotor development with absent or poor expressive language, distinctive facial features, hypotonia, laryngomalacia and obstructive sleep apnea. At present, Xia-Gibbs syndrome has been reported to be mainly caused by truncating mutations in AHDC1 gene located on chromosome 1p36.11. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183041
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http://dx.doi.org/10.1016/j.ejmg.2019.01.001DOI Listing
January 2019
5 Reads

CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.

Eur J Med Genet 2018 Dec 30. Epub 2018 Dec 30.

Clinical Research Institute, Kanagawa Children's Medical Center, Yokohama, Japan; Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan. Electronic address:

Cohen syndrome is an autosomal recessive disease characterized by myopia, retinal dystrophy, neutropenia, short stature, microcephaly, persistent hypotonia, intellectual disability (ID), and a distinct facial appearance. Cohen syndrome is caused by mutations, such as single nucleotide variants (SNVs) and small insertions/deletions, and copy number variations (CNVs) in vacuolar protein sorting 13 homolog B (VPS13B). Here, we report Japanese siblings with ID, who were subsequently diagnosed with Cohen syndrome by whole exome sequencing (WES). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183015
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http://dx.doi.org/10.1016/j.ejmg.2018.12.015DOI Listing
December 2018
2 Reads

"There is a chance for me" - Risk communication in advanced maternal age genetic counseling sessions in South Africa.

Eur J Med Genet 2018 Dec 30. Epub 2018 Dec 30.

Communication and Information Science, Rijksuniversiteit Groningen, Groningen, the Netherlands.

Providing risk information is central to genetic counseling. Many studies have examined risk communication, but the focus has been on professional and patient perspectives. Less information is available on risk communication in interactions. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.12.014DOI Listing
December 2018

Oro-dental and cranio-facial characteristics of osteogenesis imperfecta type V.

Eur J Med Genet 2018 Dec 26. Epub 2018 Dec 26.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Osteogenesis imperfecta (OI) type V is an ultrarare heritable bone disorder caused by the heterozygous c.-14C > T mutation in IFITM5. The oro-dental and craniofacial phenotype has not been described in detail, which we therefore undertook to evaluate in a multicenter study (Brittle Bone Disease Consortium). Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.12.011DOI Listing
December 2018
2 Reads

Popular culture and genetics; friend, foe or something more complex?

Eur J Med Genet 2018 Dec 24. Epub 2018 Dec 24.

Wellcome Genome Campus Society and Ethics Research and Faculty of Education, University of Cambridge, United Kingdom.

While many people enjoy popular culture, these transactional experiences may not translate into formal or academic learning about a subject. In education and science communication settings popular culture is often presented as a source of inaccurate information about science. Different publics are often positioned as, at best, undiscriminating consumers and at worst victims of distorted scientific information. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183040
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http://dx.doi.org/10.1016/j.ejmg.2018.12.005DOI Listing
December 2018
6 Reads

Hypopigmented patches in Roberts/SC phocomelia syndrome occur via aneuploidy susceptibility.

Eur J Med Genet 2018 Dec 24. Epub 2018 Dec 24.

Department of Medical Genetics, Faculty of Medicine, Gazi University, Ankara, Turkey. Electronic address:

Roberts/SC phocomelia syndrome (RBS/SC) is a rare autosomal recessive inherited condition characterized by prenatal-onset growth retardation, craniofacial anomalies, and symmetrical limb reduction defects. Here, we present two affected siblings with RBS/SC who have consanguineous parents. Both patients had intrauterine growth retardation; similar facial findings, including arched eyebrows, epicanthic folds, posteriorly angulated ears, and retrognathia; and hypopigmented patches on their skin. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183016
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http://dx.doi.org/10.1016/j.ejmg.2018.12.013DOI Listing
December 2018
1 Read

Char Syndrome a novel mutation and new insights: A clinical report.

Eur J Med Genet 2018 Dec 21. Epub 2018 Dec 21.

Medical Genetics Department of Pathology and Laboratory Medicine, American University of Beirut Medical Center, Lebanon; Department of Pediatrics and Adolescent Medicine, American University of Beirut Medical Center, Lebanon. Electronic address:

Transcription Factor AP-2 Beta (TFAP2B) functions in the differentiation of neural crest cell derivatives and contributes to the embryogenesis of the ductus arteriosus. Mutations of TFAP2B produces Char syndrome. Char syndrome is an autosomal dominant disorder comprising facial dysmorphism, hand anomalies, and patent ductus arteriosus (PDA). Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.12.012DOI Listing
December 2018
1 Read

Blurring boundaries. Interviews with PGT couples about comprehensive chromosome screening.

Eur J Med Genet 2018 Dec 17. Epub 2018 Dec 17.

UZ Brussel, Centrum Medische Genetica, Laarbeeklaan 101, 1090, Brussel, Belgium. Electronic address:

Objective: Comprehensive chromosome examination is a promising approach to Preimplantation Genetic Testing (PGT). Next to testing of specific chromosomes, such as in the case of reduced fertility due to chromosomal translocations, it allows testing of all chromosomes. Hence it potentially reduces the time to pregnancy and the risk of miscarriage. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.12.009DOI Listing
December 2018

CAPN1 mutations: Expanding the CAPN1-related phenotype: From hereditary spastic paraparesis to spastic ataxia.

Eur J Med Genet 2018 Dec 17. Epub 2018 Dec 17.

Department of Medicine (Neurology), University of Alberta, Edmonton, Canada; Departments of Medical Genetics and Pediatrics, University of Alberta, Edmonton, Canada.

Aims And Objective: To characterize the phenotype of CAPN1 (SPG76) mutations in patients diagnosed with hereditary spastic paraplegia (HSP).

Background: The CAPN1 gene, located on chromosome 11q13.1, is a protein-coding gene involved in neuronal plasticity, migration, microtubular regulation and cerebellar development. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183041
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http://dx.doi.org/10.1016/j.ejmg.2018.12.010DOI Listing
December 2018
1 Read

Bone dysplasias in 1.6 million births in Argentina.

Eur J Med Genet 2018 Dec 17. Epub 2018 Dec 17.

National Network of Congenital Anomalies in Argentina (RENAC), National Center of Medical Genetics, National Administration of Laboratories and Health Institutes, National Ministry of Health, Argentina. Electronic address:

Currently accepted birth prevalence for osteochondrodysplasias (OCDs) is about 2 per 10,000 births. Our main goal is to estimate the prevalence of OCDs in Argentina and compare it with other surveillance systems. We examined 1,663,610 births among 160 hospitals of RENAC (Red Nacional de Anomalías Congénitas - National Network of Congenital Anomalies) between November 2009 and December 2016. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183059
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http://dx.doi.org/10.1016/j.ejmg.2018.12.008DOI Listing
December 2018
5 Reads
1.486 Impact Factor

Measuring the economic value of genetic counselling.

Eur J Med Genet 2018 Dec 14. Epub 2018 Dec 14.

Manchester Centre for Health Economics, Division of Population Health, Health Services Research & Primary Care, The University of Manchester, Manchester, M13 9PL, UK.

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http://dx.doi.org/10.1016/j.ejmg.2018.12.007DOI Listing
December 2018

Effective communication in the era of precision medicine: A pilot intervention with low health literacy patients to improve genetic counseling communication.

Eur J Med Genet 2018 Dec 13. Epub 2018 Dec 13.

Department of Social & Behavioral Sciences, University of California, San Francisco, United States.

Effective communication, where all parties share a common understanding, is necessary to realize the promise of Genomic Medicine. It is especially salient given the imperative to increase the participation of diverse populations in genomics research and to expand the reach of clinical genomics. We have previously shown that cancer genetic counseling is suboptimal for patients with limited health literacy. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183045
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http://dx.doi.org/10.1016/j.ejmg.2018.12.004DOI Listing
December 2018
5 Reads

Black and Minority Ethnic women's decision-making for risk reduction strategies after BRCA testing: Use of context and knowledge.

Eur J Med Genet 2018 Dec 12. Epub 2018 Dec 12.

King's College London, Florence Nightingale Faculty of Nursing, Midwifery and Palliative Care, London, United Kingdom; Faculty of Health and Wellbeing, Sheffield Hallam University, Sheffield, United Kingdom.

Within the field of breast cancer care, women concerned about their family history are offered genetic testing and subsequent treatment options based on several factors which include but are not limited to personal and family cancer disease histories and clinical guidelines. Discussions around decision-making in genetics in Black and Minority Ethnic (BME) groups are rarely documented in literature, and information regarding interactions with genetics services is usually discussed and linked to lack of scientific knowledge. As such, counselling sessions based only on scientific and medical information miss out the many reasons participants consider in making health decisions, information which can be used to encourage BME women to engage in cancer genetics services. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.12.006DOI Listing
December 2018
6 Reads

Deletion 7q21.2-q22.1 in a case with split hand-split foot malformation, sensorineural hearing loss and intellectual disability: Phenotype subtypes and the correlation with genotypes.

Eur J Med Genet 2018 Dec 10. Epub 2018 Dec 10.

Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Raebareli Road, Lucknow, 226014, Uttar Pradesh, India. Electronic address:

The split hand/split foot malformation (SHFM) or ectrodactyly is a rare congenital heterogeneous limb developmental disorder with at least 6 associated loci. It is characterized by absence of central rays of hands and feet and fusion of remaining digits. It can present as an isolated malformation or in combination with additional anomalies (non-syndromic or syndromic ectrodactyly). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183025
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http://dx.doi.org/10.1016/j.ejmg.2018.12.002DOI Listing
December 2018
5 Reads
1.486 Impact Factor

Rare missense TUBGCP5 gene variant in a patient with primary microcephaly.

Eur J Med Genet 2018 Dec 10. Epub 2018 Dec 10.

Clinical Institute of Medical Genetics, Šlajmerjeva 4, University Medical Centre Ljubljana, Ljubljana, Slovenia. Electronic address:

Primary microcephalies (MCPH) are characterized by microcephaly (HC -2 SD at birth) in the absence of visceral malformations. To date, less than 20 genes have been associated with MCHP, several of which are involved in the formation and function of the centrosome. Here, we report a novel missense variant in the TUBGCP5 gene in a patient with primary microcephaly and mild developmental delay. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.12.003DOI Listing
December 2018

Clinical spectrum of PTEN mutation in pediatric patients. A bicenter experience.

Eur J Med Genet 2018 Dec 4. Epub 2018 Dec 4.

Pediatric Highly Intensive Care Unit, Department of Pathophysiology and Transplantation, Università degli Studi di Milano, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

Objective Of The Study: To give a full overview of the clinical presentation of PTEN mutations in pediatric patients and to propose a pediatric follow-up protocol.

Methods: Recruitment of 16 PTEN mutated children (age 6 months-11 years) from two pediatric centers in Milan (Italy) between 2006 and 2017. All the patients underwent clinical and neurologic evaluations, cognitive and behavioral tests, and brain MRI; they are currently following an oncologic follow-up. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183042
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http://dx.doi.org/10.1016/j.ejmg.2018.12.001DOI Listing
December 2018
10 Reads

Reasonable expectations of privacy in non-disclosure of familial genetic risk: What is it reasonable to expect?

Authors:
Victoria Chico

Eur J Med Genet 2018 Dec 4. Epub 2018 Dec 4.

Society and Ethics Research Group, Connecting Science, Wellcome Genome Campus, Cambridge, UK. Electronic address:

Where there is conflict between a patient's interests in non-disclosure of their genetic information to relatives and the relative's interest in knowing the information because it indicates their genetic risk, clinicians have customarily been able to protect themselves against legal action by maintaining confidence even if, professionally, they did not consider this to be the right thing to do. In ABC v St Georges Healthcare NHS Trust ([2017] EWCA Civ 336) the healthcare team recorded their concern about the wisdom of the patient's decision to withhold genetic risk information from his relative, but chose to respect what they considered to be an unwise choice. Even though professional guidance considers that clinicians have the discretion to breach confidence where they believe this to be justified, (Royal College of Physicians, Royal College of Pathologists and the British Society of Human Genetics, 2006; GMC, 2017) clinicians find it difficult to exercise this discretion in line with their convictions against the backdrop of the legal prioritisation of the duty to maintain confidence. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.013DOI Listing
December 2018
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TDRKH is a candidate gene for an autosomal dominant distal hereditary motor neuropathy.

Eur J Med Genet 2018 Nov 30. Epub 2018 Nov 30.

Division of Genomics, Medical Institute of Bioregulation, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.

Distal hereditary motor neuropathies (dHMNs) comprise a group of clinically and genetically heterogeneous inherited lower motor neuron syndromes mainly characterized by a distal-predominant pattern of progressive muscle atrophy, weakness and hyporeflexia, without sensory dysfunction. Although at least 21 causative genes for dHMN have been reported, mutational scanning of these genes often fails to identify the causative variants in dHMN cohorts, suggesting that additional causative genes remain to be identified. We studied a four-generation pedigree of a Japanese family with autosomal dominant dHMN to provide insight into the pathogenetic basis of the disease. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183033
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http://dx.doi.org/10.1016/j.ejmg.2018.11.028DOI Listing
November 2018
7 Reads

Views from the clinic: Healthcare provider perspectives on whole genome sequencing in paediatrics.

Eur J Med Genet 2018 Nov 29. Epub 2018 Nov 29.

The Centre for Genetic Medicine, The Hospital for Sick Children, Toronto, Canada; Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Canada; Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Canada. Electronic address:

Whole genome sequencing (WGS) is a transformative technology which promises improved diagnostic rates compared to conventional genetic testing strategies and tailored approaches to patient care. Due to the practical and ethical complexities associated with using WGS, particularly in the paediatric context, input from a broad spectrum of healthcare providers can guide implementation strategies. We recruited healthcare providers from the largest paediatric academic health science centre in Canada and conducted semi-structured qualitative interviews, exploring experiences with and perceptions of the opportunities and challenges associated with WGS. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.029DOI Listing
November 2018

Fostering trust in healthcare: Participants' experiences, views, and concerns about the 100,000 genomes project.

Eur J Med Genet 2018 Nov 29. Epub 2018 Nov 29.

Clinical Ethics and Law at Southampton (CELS), Faculty of Medicine University of Southampton, United Kingdom. Electronic address:

In this paper, we present findings from a project involving 20 patients with rare diseases, or parents thereof, participating in the 100,000 genomes project (100 kG P). We explored their experiences of, and views about, the project, including why they took part, and their hopes and concerns about the future of genomic medicine. Patients who attended genetic clinics for testing were offered the opportunity to undergo the more extensive whole genome sequencing (WGS) if they agreed to take part in the 100 kG P. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.024DOI Listing
November 2018

Progressive myoclonus epilepsy and ceroidolipofuscinosis 14: The multifaceted phenotypic spectrum of KCTD7-related disorders.

Eur J Med Genet 2018 Nov 27. Epub 2018 Nov 27.

Division of Child Neurology and Psychiatry, Department of Human Neurosciences, Sapienza University of Rome, Rome, Italy. Electronic address:

Background: Mutations in the KCTD7 gene have been associated with progressive myoclonus epilepsy and, in a single patient, with the so-called "Neuronal Ceroid Lipofuscinosis 14" (characterised by myoclonic seizures, cognitive regression, optic atrophy leading to visual loss, and progressive cortical and cerebellar atrophy).

Clinical Reports: We describe two new patients carrying two novel pathogenic mutations in the KCTD7 gene. Patient 1 (NM_153033. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.025DOI Listing
November 2018
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Intrafamilial variability of XYLT2-related spondyloocular syndrome.

Eur J Med Genet 2018 Nov 27. Epub 2018 Nov 27.

Department of Medical Genetics, Hacettepe University Faculty of Medicine, Ankara, Turkey; Division of Pediatric Genetics, Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara, Turkey.

Spondyloocular syndrome is characterized by generalized osteoporosis, multiple fractures and severe ocular findings. The causative XYLT2 mutations have recently been identified with the use of whole exome sequencing. We report on two siblings with spondyloocular syndrome who presented with varying clinical severity. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.019DOI Listing
November 2018

Developing a short-form of the Genetic Counselling Outcome Scale: The Genomics Outcome Scale.

Eur J Med Genet 2018 Nov 26. Epub 2018 Nov 26.

Centre for Medical Education, School of Medicine, Cardiff University, Cardiff, UK. Electronic address:

The Genetic Counselling Outcome Scale (GCOS-24) is a 24-item patient reported outcome measure for use in evaluations of genetic counselling and testing services. The aim of this study was to develop a short form of GCOS-24. The study comprised three phases. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.015DOI Listing
November 2018
10 Reads

Molecular analysis of 19 Spanish patients with mixed porphyrias.

Eur J Med Genet 2018 Nov 23. Epub 2018 Nov 23.

Instituto de Investigación Hospital 12 de Octubre, Madrid, Spain. Electronic address:

Porphyrias are rare diseases caused by alterations in the heme biosynthetic pathway. Depending on the afected enzyme, porphyrin precursors or porphyrins are overproduced, causing acute neurovisceral attacks or dermal photosensitivity, respectively. Hereditary Coproporphyria (HCP) and Variegate Porphyria (VP) are mixed porphyrias since they can present acute and/or cutaneous symptoms. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.023DOI Listing
November 2018
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Attitudes of publics who are unwilling to donate DNA data for research.

Eur J Med Genet 2018 Nov 23. Epub 2018 Nov 23.

Society and Ethics Research, Connecting Science, Wellcome Genome Campus, Cambridge, UK; Institute of Psychiatry, Psychology, and Neuroscience, King's College London, London, UK; Centre for Epidemiology and Biostatistics, Melbourne School of Global and Population Health, The University of Melbourne, Melbourne, Australia.

With the use of genetic technology, researchers have the potential to inform medical diagnoses and treatment in actionable ways. Accurate variant interpretation is a necessary condition for the utility of genetic technology to unfold. This relies on the ability to access large genomic datasets so that comparisons can be made between variants of interest. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183073
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http://dx.doi.org/10.1016/j.ejmg.2018.11.014DOI Listing
November 2018
15 Reads

LHFPL5 mutation: A rare cause of non-syndromic autosomal recessive hearing loss.

Eur J Med Genet 2018 Nov 23. Epub 2018 Nov 23.

Section of Ophthalmology & Neuroscience, Leeds Institute of Medical Research at St. James's, University of Leeds, United Kingdom. Electronic address:

Hearing loss is a debilitating disorder that impairs language acquisition, resulting in disability in children and potential isolation in adulthood. Its onset can have a genetic basis, though environmental factors, which are often preventable, can also cause the condition. The genetic forms are highly heterogeneous, and early detection is necessary to arrange appropriate patient support. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183010
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http://dx.doi.org/10.1016/j.ejmg.2018.11.026DOI Listing
November 2018
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A narrative overview of the patients' outcomes after multigene cancer panel testing, and a thorough evaluation of its implications for genetic counselling.

Eur J Med Genet 2018 Nov 23. Epub 2018 Nov 23.

High Risk and Cancer Prevention Unit, Vall D'Hebron Institute of Oncology, Barcelona, Spain; Medical Oncology Department, Vall D'Hebron Hospital, Barcelona, Spain.

Massively parallel sequencing is being implemented in clinical practice through the use of multigene panel testing, whole exome sequencing and whole genome sequencing. In this manuscript we explore how the use of massively parallel sequencing, and in particular multigene cancer panel testing, is potentially changing the process of genetic counselling and how patients cope with pre-test genetic counselling and results. We found that the main challenges are around uncertainty, hopes and expectations and the amount and complexity of information that needs to be discussed. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.027DOI Listing
November 2018
7 Reads

Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes.

Eur J Med Genet 2018 Nov 22. Epub 2018 Nov 22.

Department of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France. Electronic address:

The SPECC1L protein plays a role in adherens junctions involved in cell adhesion, actin cytoskeleton organization, microtubule stabilization, spindle organization and cytokinesis. It modulates PI3K-AKT signaling and controls cranial neural crest cell delamination during facial morphogenesis. SPECC1L causative variants were first identified in individuals with oblique facial clefts. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183046
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http://dx.doi.org/10.1016/j.ejmg.2018.11.022DOI Listing
November 2018
8 Reads

PUF60-SCRIB fusion transcript in a patient with 8q24.3 microdeletion and atypical Verheij syndrome.

Eur J Med Genet 2018 Nov 23. Epub 2018 Nov 23.

Institute for Clinical Genetics, Faculty of Medicine Carl Gustav Carus, TU Dresden, Germany. Electronic address:

Expression of the fusion genes is considered to be an important mechanism of tumorigenesis. However it is hardly ever discussed in relation to the neurodevelopmental disorders. Here we report on an 18-years-old female patient with 13. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.021DOI Listing
November 2018
10 Reads

A previously identified missense mutation in STYXL1 is likely benign.

Eur J Med Genet 2018 Nov 22. Epub 2018 Nov 22.

Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany. Electronic address:

Based on a homozygous missense variant p.Pro311Ala found in three siblings of a consanguineous family, mutations in the STYXL1 gene were suggested to cause moderate intellectual disability, epilepsy and complex behavioural abnormalities. We have detected this variant via whole exome sequencing in a homozygous state in two families. Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.016DOI Listing
November 2018
9 Reads

Biallelic mutations in AP3D1 cause Hermansky-Pudlak syndrome type 10 associated with immunodeficiency and seizure disorder.

Eur J Med Genet 2018 Nov 22. Epub 2018 Nov 22.

Department of Genetics, College of Medicine and Health Sciences, Sultan Qaboos University, Muscat, Oman; Genetic and Developmental Medicine Clinic, Sultan Qaboos University Hospital, Muscat, Oman. Electronic address:

Several types of Hermansky-Pudlak syndromes (HPS) represent a group of immunodeficiency syndromes that feature both leukocyte defects with partial albinism of hair, skin, and eyes. These conditions share defects in genes that encode proteins involved in the biogenesis, function, and trafficking of secretory lysosomes. Mutations in AP3D1 which encode the main subunit AP-3(δ) were recently reported on one individual and led to Hermansky-Pudlak Syndrome type 10 (HPS10; OMIM 617050). Read More

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http://dx.doi.org/10.1016/j.ejmg.2018.11.017DOI Listing
November 2018