7,826 results match your criteria Clinical Genetics [Journal]


ADAMTSL1 and mandibular prognathism.

Clin Genet 2019 Feb 3. Epub 2019 Feb 3.

Division of Orthodontics, Department of Orthodontics and Pediatric Dentistry, Faculty of Dentistry, Chiang Mai University, Chiang Mai, Thailand.

Mandibular prognathism is characterized by a prognathic or prominent mandible. The objective of this study was to find the gene responsible for mandibular prognathism. Whole exome sequencing analysis of a Thai family (family 1) identified the ADAMTSL1 c. Read More

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http://dx.doi.org/10.1111/cge.13519DOI Listing
February 2019
1 Read
3.931 Impact Factor

Further quantitative insights into the decrease of heteroplasmy of m.3243A>G with age in leukocytes.

Authors:
Reiner A Veitia

Clin Genet 2019 Jan 28. Epub 2019 Jan 28.

Institut Jacques Monod, Université Paris Diderot, Paris, France.

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http://doi.wiley.com/10.1111/cge.13496
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http://dx.doi.org/10.1111/cge.13496DOI Listing
January 2019
1 Read

Expanding the clinical spectrum associated with PACS2 mutations.

Clin Genet 2019 Jan 25. Epub 2019 Jan 25.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome, Italy.

Whole exome sequencing (WES) has led to the understanding of the molecular events affecting neurodevelopment in an extremely diverse clinical context, including diseases with intellectual disability (ID) associated with variable central nervous system malformations, and developmental and epileptic encephalopathies (DEEs). Recently, PACS2 mutations have been causally linked to a DEE with cerebellar dysgenesis and facial dysmorphism. All known patients presented with a recurrent de novo missense mutation, c. Read More

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http://dx.doi.org/10.1111/cge.13516DOI Listing
January 2019

Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.

Clin Genet 2019 Jan 24. Epub 2019 Jan 24.

Department of Pediatrics, Academic Medical Centre, Amsterdam UMC, Amsterdam, The Netherlands.

Pitt-Hopkins syndrome (PTHS) is a neurodevelopmental disorder characterized by intellectual disability, specific facial features, and marked autonomic nervous system dysfunction, especially with disturbances of regulating respiration and intestinal mobility. It is caused by variants in the transcription factor TCF4. Heterogeneity in the clinical and molecular diagnostic criteria and care practices has prompted a group of international experts to establish guidelines for diagnostics and care. Read More

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http://dx.doi.org/10.1111/cge.13506DOI Listing
January 2019
1 Read

Liquid Biopsy in Breast Cancer: A Comprehensive Review.

Clin Genet 2019 Jan 22. Epub 2019 Jan 22.

Women's College Research Institute, Women's College Hospital, University of Toronto, Toronto, Ontario, Canada.

Breast cancer is the most common cancer among women worldwide. Due to its complexity in nature, effective breast cancer treatment can encounter many challenges. Traditional methods of cancer detection such as tissue biopsy are not comprehensive enough to capture the entire genomic landscape of breast tumors. Read More

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http://dx.doi.org/10.1111/cge.13514DOI Listing
January 2019
2 Reads

Deep phenotyping of fourteen new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.

Clin Genet 2019 Jan 21. Epub 2019 Jan 21.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

Whole exome sequencing has established IQSEC2 as a neurodevelopmental disability gene. The IQSEC2 variant phenotype includes developmental delay, intellectual disability, epilepsy, hypotonia, autism, developmental regression, microcephaly and stereotypies but is yet to be fully described. Presented here, are 14 new patients with IQSEC2 variants. Read More

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http://doi.wiley.com/10.1111/cge.13507
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http://dx.doi.org/10.1111/cge.13507DOI Listing
January 2019
9 Reads

Assessment of pre-implantation genetic testing for embryo aneuploidies: A SWOT analysis.

Clin Genet 2019 Jan 17. Epub 2019 Jan 17.

Reproductive Sciences Laboratory, Division of Genetics and Cell Biology, IRCCS San Raffaele Scientific Institute, Milan, Italy.

The recently re-named pre-implantation genetic testing for determining embryo aneuploidies (PGT-A) is presently very popular although its acceptance by the scientific community is controversial. This approach still encounters drawbacks. This paper uses a SWOT (strengths, weaknesses, opportunities and threats) analysis to discuss salient points to be considered when examining the pre-implantation genetic testing (PGT-A) strategy to gather information from a range of perspectives. Read More

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http://dx.doi.org/10.1111/cge.13510DOI Listing
January 2019
1 Read

Newly identified set of obesity-related genotypes and abdominal fat influence the risk of insulin resistance in a Korean population.

Clin Genet 2019 Jan 17. Epub 2019 Jan 17.

Research Center for Silver Science, Institute of Symbiotic Life-TECH, Yonsei University, Seoul, South Korea.

We aimed to identify obesity-related single-nucleotide polymorphism (SNP) loci in a Korean population and construct an obesity genetic risk score (GRS) to examine the association of the genetic predisposition to obesity with insulin resistance (IR). In total, 9675 subjects were included, and 7666 of these subjects were used for replication. A GRS was constructed using the SNP loci that overlapped in both cohort sets. Read More

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http://dx.doi.org/10.1111/cge.13509DOI Listing
January 2019
2 Reads

Difficulties and challenges in the development of precision medicine.

Clin Genet 2019 Jan 17. Epub 2019 Jan 17.

Department of Thoracic Surgery, Tianjin Union Medical Center, Tianjin, People's Republic of China.

The rapid development of precision medicine is introducing a new era of significance in medicine. However, attaining precision medicine is an ambitious goal that is bound to encounter some challenges. Here, we have put forward some difficulties or questions that should be addressed by the progress in this field. Read More

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http://dx.doi.org/10.1111/cge.13511DOI Listing
January 2019
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CLINICAL AND MOLECULAR DIAGNOSIS OF NON-PMM2 N-LINKED CONGENITAL DISORDERS OF GLYCOSYLATION IN SPAIN.

Clin Genet 2019 Jan 17. Epub 2019 Jan 17.

Centro de Diagnóstico de Enfermedades Moleculares, Centro de Biología Molecular, Universidad Autónoma de Madrid, CIBERER, IdiPAZ, Madrid.

The congenital disorders of glycosylation (CDG) are defects in glycoprotein and glycolipid glycan synthesis and attachment. They affect multiple organ/systems but non-specific symptoms render the diagnosis of the different CDG very challenging. PMM2-CDG is the most common CDG, but advances in genetic analysis have shown others to occur more commonly than previously thought. Read More

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http://dx.doi.org/10.1111/cge.13508DOI Listing
January 2019
1 Read

Hypermobile Ehlers-Danlos-like syndrome in Fabry disease.

Clin Genet 2019 Jan 15. Epub 2019 Jan 15.

Department of Visceral Surgery, Lausanne University Hospital, Lausanne, Switzerland.

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http://doi.wiley.com/10.1111/cge.13497
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http://dx.doi.org/10.1111/cge.13497DOI Listing
January 2019
4 Reads

Constitutional mosaicism in RASA1-related capillary malformation-arteriovenous malformation.

Clin Genet 2019 Jan 11. Epub 2019 Jan 11.

Vascular Malformations Section, Institute of Medical and Molecular Genetics, INGEMM-IdiPAZ, Hospital Universitario La Paz, Madrid, Spain.

Capillary malformation-arteriovenous malformation (CM-AVM) is caused by germline RASA1 and EPHB4 alterations. RASA1 intralesional second hits have also been reported. Here we report RASA1 constitutional mosaicism, defined here as the presence of a mosaic variant in all cell types of an individual, in two patients with CM-AVM. Read More

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http://dx.doi.org/10.1111/cge.13499DOI Listing
January 2019
1 Read

Correction to: Mutational characteristics of ANK1 and SPTB genes in hereditary spherocytosis.

Clin Genet 2019 Feb;95(2):341

Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Republic of Korea.

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http://doi.wiley.com/10.1111/cge.13476
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http://dx.doi.org/10.1111/cge.13476DOI Listing
February 2019
7 Reads

Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.

Clin Genet 2019 Mar 11;95(3):420-426. Epub 2019 Jan 11.

CHU Bordeaux, Service de Génétique Médicale, Bordeaux, France.

Rubinstein-Taybi syndrome (RSTS; OMIM 180849) is an autosomal dominant developmental disorder characterized by facial dysmorphism, broad thumbs and halluces associated with intellectual disability. RSTS is caused by alterations in CREBBP (about 60%) and EP300 genes (8%). RSTS is often diagnosed at birth or during early childhood but generally not suspected during antenatal period. Read More

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http://doi.wiley.com/10.1111/cge.13493
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http://dx.doi.org/10.1111/cge.13493DOI Listing
March 2019
10 Reads

MRX93 syndrome (BRWD3 gene): five new patients with novel mutations.

Clin Genet 2019 Jan 9. Epub 2019 Jan 9.

Institute of Medical and Molecular Genetics (INGEMM)-IdiPAZ, Hospital Universitario La Paz-UAM Paseo de La Castellana, Madrid, Spain.

Overgrowth syndromes (OGS) comprise a heterogeneous group of disorders whose main characteristic is that either the weight, height, or head circumference are above the 97th centile or 2-3 standard deviations (SD) above the mean for age and sex. Additional features such as facial dysmorphism, developmental delay or intellectual disability (ID), congenital anomalies, neurological problems and an increased risk of neoplasia are usually associated with OGS. Genetic analysis in patients with overlapping clinical features is essential, in order to distinguish between two or more similar conditions, and to provide appropriate genetic counseling and recommendations for follow up. Read More

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http://doi.wiley.com/10.1111/cge.13504
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http://dx.doi.org/10.1111/cge.13504DOI Listing
January 2019
7 Reads

Novel mutations in WEE2: expanding the spectrum of mutations responsible for human fertilization failure.

Clin Genet 2019 Jan 9. Epub 2019 Jan 9.

State Key Laboratory of Medical Neurobiology, Institutes of Biomedical Sciences, Zhongshan Hospital, Fudan University, Shanghai, China.

Successful fertilization is fundamental for sexual reproduction. After undergoing a series of molecular and morphological changes, the haploid sperm fuses with the haploid oocyte to create a diploid zygote. Defects in this process might lead to human fertilization failure. Read More

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http://doi.wiley.com/10.1111/cge.13505
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http://dx.doi.org/10.1111/cge.13505DOI Listing
January 2019
15 Reads

Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia.

Clin Genet 2019 Mar;95(3):427-432

Center for Ectodermal Dysplasias and Department of Pediatrics, University Hospital Erlangen, Erlangen, Germany.

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic condition resulting from defective development of ectodermal derivatives, such as hair, teeth, and sweat glands. Autosomal recessive (AR) forms of HED may be caused by pathogenic variants of the ectodysplasin A1 receptor (EDAR) gene that encodes a receptor involved in the NF-κB signaling pathway. Here, we describe three cases of AR-HED in families of Turkish, Austrian, and German-American origin (with or without known consanguinity). Read More

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http://dx.doi.org/10.1111/cge.13503DOI Listing
March 2019
1 Read

A novel homozygous sequence variant in GLI1 underlies first case of autosomal recessive pre-axial polydactyly.

Clin Genet 2019 Jan 8. Epub 2019 Jan 8.

Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.

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http://dx.doi.org/10.1111/cge.13495DOI Listing
January 2019
1 Read
3.931 Impact Factor

Bardet-Biedl syndrome: Antenatal presentation of forty-five fetuses with biallelic pathogenic variants in known Bardet-Biedl syndrome genes.

Clin Genet 2019 Mar;95(3):384-397

Laboratoire de Diagnostic Génétique, Hôpitaux Universitaires de Strasbourg, Strasbourg, France.

Bardet-Biedl syndrome (BBS) is an emblematic ciliopathy associated with retinal dystrophy, obesity, postaxial polydactyly, learning disabilities, hypogonadism and renal dysfunction. Before birth, enlarged/cystic kidneys as well as polydactyly are the hallmark signs of BBS to consider in absence of familial history. However, these findings are not specific to BBS, raising the problem of differential diagnoses and prognosis. Read More

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http://dx.doi.org/10.1111/cge.13500DOI Listing
March 2019
3 Reads

Long non-coding RNAs differential expression in breast cancer subtypes: What do we know?

Clin Genet 2019 Jan 7. Epub 2019 Jan 7.

Department of Genetics, Federal University of Parana, Curitiba, Brazil.

Breast Cancer (BC) is the most commonly diagnosed cancer and is the leading cause of cancer deaths in women. BC is a heterogeneous disease with different clinical and genetic features. According to immunohistochemical markers, BC is subdivided into four main subtypes: luminal A, luminal B, ERBB2 positive and triple negative. Read More

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http://dx.doi.org/10.1111/cge.13502DOI Listing
January 2019
1 Read
3.931 Impact Factor

Rapid reversal of clinical down-classification of a BRCA1 splicing variant avoiding psychological harm.

Clin Genet 2018 Dec 26. Epub 2018 Dec 26.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.

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http://dx.doi.org/10.1111/cge.13488DOI Listing
December 2018
1 Read

The genetic pathogenesis, diagnosis and therapeutic insight of rheumatoid arthritis.

Clin Genet 2018 Dec 21. Epub 2018 Dec 21.

Department of Biochemistry, University of Otago, Dunedin, New Zealand.

Rheumatoid arthritis (RA) is a systemic autoimmune disease that causes chronic inflammation of the joints. RA is a heterogeneous disorder caused by an abnormal autoimmune response triggered by the complex interactions of genetic and environmental factors that contribute to RA etiology. However, its underlying pathogenic mechanisms are yet to be fully understood. Read More

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http://dx.doi.org/10.1111/cge.13498DOI Listing
December 2018
1 Read

The many faces of peroxisomal disorders: Lessons from a large Arab cohort.

Clin Genet 2019 Feb 18;95(2):310-319. Epub 2018 Dec 18.

Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Defects in the peroxisomes biogenesis and/or function result in peroxisomal disorders. In this study, we describe the largest Arab cohort to date (72 families) of clinically, biochemically and molecularly characterized patients with peroxisomal disorders. At the molecular level, we identified 43 disease-causing variants, half of which are novel. Read More

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http://doi.wiley.com/10.1111/cge.13481
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http://dx.doi.org/10.1111/cge.13481DOI Listing
February 2019
5 Reads
3.931 Impact Factor

Comprehensive genotyping reveals novel CFTR variants in cystic fibrosis patients from the Russian Federation.

Clin Genet 2019 Mar 12;95(3):444-447. Epub 2018 Dec 12.

Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics (RCMG), Moscow, Russia.

Single nucleotide variants are represented as lines. The height of the line corresponds to the allele frequency. Gross chromosomal copy number variations are shown as arrows. Read More

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http://dx.doi.org/10.1111/cge.13477DOI Listing
March 2019
1 Read

A study in a Polish ataxia cohort indicates genetic heterogeneity and points to MTCL1 as a novel candidate gene.

Clin Genet 2019 Mar 8;95(3):415-419. Epub 2019 Jan 8.

Department of Medical Genetics, Medical University of Warsaw, Warsaw, Poland.

Inherited ataxias are a group of highly heterogeneous, complex neurological disorders representing a significant diagnostic challenge in clinical practice. We performed a next-generation sequencing (NGS) analysis in 10 index cases with unexplained progressive cerebellar ataxia of suspected autosomal recessive inheritance. A definite molecular diagnosis was obtained in 5/10 families and included the following diseases: autosomal recessive spastic ataxia of Charlevoix-Saguenay, POLR3B-related hypomyelinating leukodystrophy, primary coenzyme Q10 deficiency type 4, Niemann-Pick disease type C1 and SYNE1-related ataxia. Read More

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http://dx.doi.org/10.1111/cge.13489DOI Listing
March 2019
14 Reads

Whole genome sequencing of consanguineous families reveals novel pathogenic variants in intellectual disability.

Clin Genet 2019 Mar 7;95(3):436-439. Epub 2018 Dec 7.

Department of Immunology, Genetics and Pathology, Science for Life Laboratory, Uppsala University, Uppsala, Sweden.

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http://dx.doi.org/10.1111/cge.13470DOI Listing
March 2019
1 Read

MicroRNA single-nucleotide polymorphisms and diabetes mellitus: A comprehensive review.

Clin Genet 2018 Dec 7. Epub 2018 Dec 7.

Department of Cardiovascular Ultrasound, The First Affiliated Hospital of China Medical University, Shenyang, China.

Diabetes mellitus (DM) has become the third major chronic non-communicable disease affecting global public health, following cancer and cardiovascular and cerebrovascular diseases. Although previous studies have found a correlation between microRNA (miRNA) and the development of DM, thus far, most reviews have focused on the studies describing the changes in miRNA expression profiles and the mechanisms by which miRNAs-induce DM. However, reviews summarizing the effect of miRNA single-nucleotide polymorphisms on the developmental stages of DM and its complications are still needed. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13491
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http://dx.doi.org/10.1111/cge.13491DOI Listing
December 2018
7 Reads

Mutations in RELT cause autosomal recessive amelogenesis imperfecta.

Clin Genet 2019 Mar 21;95(3):375-383. Epub 2018 Dec 21.

Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Ann Arbor, Michigan.

Amelogenesis imperfecta (AI) is a collection of isolated (non-syndromic) inherited diseases affecting dental enamel formation or a clinical phenotype in syndromic conditions. We characterized three consanguineous AI families with generalized irregular hypoplastic enamel with rapid attrition that perfectly segregated with homozygous defects in a novel gene: RELT that is a member of the tumor necrosis factor receptor superfamily (TNFRSF). RNAscope in situ hybridization of wild-type mouse molars and incisors showed specific Relt mRNA expression by secretory stage ameloblasts and by odontoblasts. Read More

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http://doi.wiley.com/10.1111/cge.13487
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http://dx.doi.org/10.1111/cge.13487DOI Listing
March 2019
14 Reads

A genome-wide association study identifies new genes associated with developmental dysplasia of the hip.

Clin Genet 2019 Mar 11;95(3):345-355. Epub 2019 Jan 11.

State Key Laboratory of Pharmaceutical Biotechnology, Department of Sports Medicine and Adult Reconstructive Surgery, Nanjing Drum Tower Hospital, The Affiliated Hospital of Nanjing University Medical School, Nanjing, China.

Developmental dysplasia of the hip (DDH) is one of the most common congenital malformations and covers a spectrum of hip disorders from mild dysplasia to irreducible dislocation. The pathological mechanisms of DDH are poorly understood, which hampers the development of diagnostic tools and treatments. To gain insight into its disease mechanism, we explored the potential biological processes that underlie DDH by integrating pathway analysis tools and performing a genome-wide association study (GWAS). Read More

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http://dx.doi.org/10.1111/cge.13483DOI Listing
March 2019
4 Reads

XRCC2 mutation causes premature ovarian insufficiency as well as non-obstructive azoospermia in humans.

Clin Genet 2019 Mar 29;95(3):442-443. Epub 2018 Nov 29.

Institute of Reproductive and Stem Cell Engineering, School of Basic Medical Science, Central South University, Changsha, Hunan , China.

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http://dx.doi.org/10.1111/cge.13475DOI Listing
March 2019
3 Reads

Bi-allelic recessive loss-of-function mutations in FIGLA cause premature ovarian insufficiency with short stature.

Clin Genet 2019 Mar 18;95(3):409-414. Epub 2018 Dec 18.

IVF Center, Department of Obstetrics and Gynecology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.

Premature ovarian insufficiency (POI) is a group of heterogeneous disorders characterized by decreased ovarian reserve and increased follicle stimulating hormone (FSH) levels. It is rarely associated with short stature. FIGLA mutations with POI are identified with regard to heterozygosity; till date, only one affected family has been identified with homozygous mutations in FIGLA but without functional evaluation. Read More

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http://dx.doi.org/10.1111/cge.13486DOI Listing
March 2019
2 Reads

Targeted panel sequencing in adult patients with left ventricular non-compaction reveals a large genetic heterogeneity.

Clin Genet 2019 Mar 27;95(3):356-367. Epub 2018 Dec 27.

Sorbonne Universités, UPMC Univ. Paris 06, INSERM, UMR_S 1166 and ICAN Institute for Cardiometabolism and Nutrition, Paris, France.

Left ventricular non-compaction (LVNC) is a cardiomyopathy that may be of genetic origin; however, few data are available about the yield of mutation, the spectrum of genes and allelic variations. The aim of this study was to better characterize the genetic spectrum of isolated LVNC in a prospective cohort of 95 unrelated adult patients through the molecular investigation of 107 genes involved in cardiomyopathies and arrhythmias. Fifty-two pathogenic or probably pathogenic variants were identified in 40 patients (42%) including 31 patients (32. Read More

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http://dx.doi.org/10.1111/cge.13484DOI Listing
March 2019
2 Reads

A HS6ST2 gene variant associated with X-linked intellectual disability and severe myopia in two male twins.

Clin Genet 2019 Mar 26;95(3):368-374. Epub 2018 Dec 26.

Division of pathology, Research Laboratory Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.

X-linked intellectual disability (XLID) refers to a clinically and genetically heterogeneous neurodevelopmental disorder, in which males are more heavily affected than females. Among the syndromic forms of XLID, identified by additional clinical signs as part of the disease spectrum, the association between XLID and severe myopia has been poorly characterized. We used whole exome sequencing (WES) to study two Italian male twins presenting impaired intellectual function and adaptive behavior, in association with severe myopia and mild facial dysmorphisms. Read More

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http://doi.wiley.com/10.1111/cge.13485
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http://dx.doi.org/10.1111/cge.13485DOI Listing
March 2019
4 Reads

Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism.

Clin Genet 2019 Feb 26;95(2):320-324. Epub 2018 Dec 26.

Division of Pediatric Endocrinology, Cukurova University, Faculty of Medicine, Adana, Turkey.

Idiopathic hypogonadotropic hypogonadism (IHH) can be divided into two major forms, normosmic IHH and Kallmann syndrome (KS). Genetic mutations are responsible for the majority of IHH. PLXNA1 has recently been implicated in the GnRH neuron migration and the etiology of KS. Read More

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http://dx.doi.org/10.1111/cge.13482DOI Listing
February 2019
18 Reads

A novel mutation in MYORG causes primary familial brain calcification with central neuropathic pain.

Clin Genet 2019 Mar 20;95(3):433-435. Epub 2018 Nov 20.

Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, P. R. China.

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http://dx.doi.org/10.1111/cge.13467DOI Listing
March 2019
1 Read

Genetic risk score modifies the effect of APOE on risk and age onset of Alzheimer's disease.

Clin Genet 2019 Feb 12;95(2):302-309. Epub 2018 Dec 12.

State Key Laboratory of Genetic Engineering, School of Life Sciences, Fudan University, Shanghai, China.

Single nucleotide polymorphism (SNP)-based genetic risk score (GRS) and APOE genotype are both important in risk prediction of Alzheimer's disease (AD); however, the interaction between GRS and APOE has not been extensively investigated. Our objective was to determine whether GRS modifies the APOE effect on AD risk and age at onset (AAO). The study included 774 AD cases and 767 controls of European descent. Read More

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http://dx.doi.org/10.1111/cge.13479DOI Listing
February 2019
10 Reads
3.931 Impact Factor

A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism.

Clin Genet 2019 Feb 20;95(2):339-340. Epub 2018 Nov 20.

Department of Paediatric Neurology, Araba University Hospital, Vitoria-Gasteiz, Spain.

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http://dx.doi.org/10.1111/cge.13466DOI Listing
February 2019
3 Reads

Genetics meets DNA methylation in rare diseases.

Clin Genet 2019 Feb 18;95(2):210-220. Epub 2018 Dec 18.

Sorbonne Paris Cité, Epigenetics and Cell Fate, UMR 7216 CNRS, Université Paris Diderot, Paris, France.

Alterations in epigenetic landscapes are hallmarks of many complex human diseases, yet, it is often challenging to assess the underlying mechanisms and causal link with clinical manifestations. In this regard, monogenic diseases that affect actors of the epigenetic machinery are of considerable interest to learn more about the etiology of complex traits. Spectacular breakthroughs in medical genetics are largely the result of advances in genome-wide approaches to identify genomic and epigenomic alterations in patients. Read More

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http://dx.doi.org/10.1111/cge.13480DOI Listing
February 2019
2 Reads

Mesomelia-synostoses syndrome: Description of a patient presenting a monoallelic expression of SULF1 without alterations in the SLCOA1 gene.

Clin Genet 2019 Feb 18;95(2):336-338. Epub 2018 Nov 18.

Regional Coordinator Centre for Rare Diseases, Department of Laboratory Medicine, Academic Hospital "Santa Maria della Misericordia" Udine, Udine, Italy.

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http://doi.wiley.com/10.1111/cge.13464
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http://dx.doi.org/10.1111/cge.13464DOI Listing
February 2019
14 Reads

FLAD1, encoding FAD synthase, is mutated in a patient with myopathy, scoliosis and cataracts.

Clin Genet 2018 Dec;94(6):592-593

Secció Errors Congènits del Metabolisme-IBC, Servei de Bioquímica i Genètica Molecular, Hospital Clínic de Barcelona, IDIBAPS, Barcelona, Spain.

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http://doi.wiley.com/10.1111/cge.13452
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http://dx.doi.org/10.1111/cge.13452DOI Listing
December 2018
6 Reads

Preferences for in-person disclosure: Patients declining telephone disclosure characteristics and outcomes in the multicenter Communication Of GENetic Test Results by Telephone study.

Clin Genet 2019 Feb 7;95(2):293-301. Epub 2018 Dec 7.

Department of Medicine, Division of Hematology-Oncology, University of Pennsylvania, Philadelphia, Pennsylvania.

Telephone disclosure of cancer genetic test results is noninferior to in-person disclosure. However, how patients who prefer in-person communication of results differ from those who agree to telephone disclosure is unclear but important when considering delivery models for genetic medicine. Patients undergoing cancer genetic testing were recruited to a multicenter, randomized, noninferiority trial (NCT01736345) comparing telephone to in-person disclosure of genetic test results. Read More

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http://doi.wiley.com/10.1111/cge.13474
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http://dx.doi.org/10.1111/cge.13474DOI Listing
February 2019
9 Reads

Mosaic MECP2 variants in males with classical Rett syndrome features, including stereotypical hand movements.

Clin Genet 2019 Mar 7;95(3):403-408. Epub 2018 Dec 7.

Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

Rett syndrome is rarely suspected in males because of the X-linked dominant inheritance. In the literature, only six male patients have been reported with methyl-CpG-binding protein 2 (MECP2) mosaicism. Next-generation sequencing (NGS) methods have enabled better detection of somatic mosaicism compared to conventional Sanger sequencing; however, mosaics can still be difficult to detect. Read More

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http://dx.doi.org/10.1111/cge.13473DOI Listing
March 2019
7 Reads

Phenotero: Annotate as you write.

Clin Genet 2019 Feb 7;95(2):287-292. Epub 2018 Dec 7.

NeuroCure Clinical Research Center, Charité Universitätsmedizin, Berlin, Germany.

In clinical genetics, the Human Phenotype Ontology as well as disease ontologies are often used for deep phenotyping of patients and coding of clinical diagnoses. However, assigning ontology classes to patient descriptions is often disconnected from writing patient reports or manuscripts in word processing software. This additional workload and the requirement to install dedicated software may discourage usage of ontologies for parts of the target audience. Read More

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http://doi.wiley.com/10.1111/cge.13471
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http://dx.doi.org/10.1111/cge.13471DOI Listing
February 2019
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Fragile X syndrome and connective tissue dysregulation.

Clin Genet 2019 Feb 27;95(2):262-267. Epub 2018 Nov 27.

Facultad de Ciencias Naturales y Matemáticas, Universidad del Rosario, Bogotá, Colombia.

Fragile X syndrome (FXS) is the most common cause of inherited intellectual disabilities and autism spectrum disorders, and it is an X-linked disorder in which there is a deficiency of the fragile X mental retardation 1 protein. This protein is crucial in regulating translation of mRNAs related to dendritic maturation and cognitive development. The phenotype of FXS is characterized by neurobehavioral alterations, social deficits, communication difficulties, and findings which suggest an alteration of connective tissue, especially in the ligaments and muscles, cardiovascular system and genitourinary system. Read More

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http://dx.doi.org/10.1111/cge.13469DOI Listing
February 2019
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Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome.

Clin Genet 2019 Mar 27;95(3):398-402. Epub 2018 Nov 27.

Department of Medical Genetics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

Waardenburg syndrome (WS) is a disorder of neural crest cell migration characterized by auditory and pigmentary abnormalities. We investigated a cohort of 14 families (16 subjects) either by targeted sequencing or whole-exome sequencing. Thirteen of these families were clinically diagnosed with WS and one family with isolated non-syndromic hearing loss (NSHL). Read More

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http://doi.wiley.com/10.1111/cge.13468
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http://dx.doi.org/10.1111/cge.13468DOI Listing
March 2019
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LOXL3 novel mutation causing a rare form of autosomal recessive Stickler syndrome.

Clin Genet 2019 Feb 18;95(2):325-328. Epub 2018 Nov 18.

Division of Genetic and Metabolic Disorders, Tawam Hospital, Al Ain, United Arab Emirates.

Stickler syndrome is a collagenopathy that is typically inherited as autosomal dominant disease caused by monoallelic mutations in COL2A1, COL11A2, and COL11A1. Rarely, biallelic mutations in COL9A1, COL9A2, and COL9A3 cause an autosomal recessive Stickler syndrome. One previous report described two siblings with Stickler syndrome and a homozygous mutation in LOXL3, suggesting that biallelic mutations in LOXL3 can also cause autosomal recessive Stickler syndrome. Read More

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http://doi.wiley.com/10.1111/cge.13465
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http://dx.doi.org/10.1111/cge.13465DOI Listing
February 2019
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Novel KAT6B proximal familial variant expands genotypic and phenotypic spectrum.

Clin Genet 2019 Feb 24;95(2):334-335. Epub 2018 Oct 24.

Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK.

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http://dx.doi.org/10.1111/cge.13456DOI Listing
February 2019
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