7,865 results match your criteria Clinical Genetics [Journal]


The clinical presentation caused by truncating CHD8 variants.

Clin Genet 2019 Apr 18. Epub 2019 Apr 18.

Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, United Kingdom.

Variants in the chromodomain helicase DNA-binding protein 8 (CHD8) have been associated with intellectual disability (ID), autism spectrum disorders (ASD) and overgrowth and CHD8 is one of the causative genes for OGID (overgrowth and ID). We investigated 25 individuals with CHD8 protein truncating variants (PTVs), including 10 previously unreported patients and found a male to female ratio of 2.7:1 (19:7) and a pattern of common features: macrocephaly (62. Read More

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http://doi.wiley.com/10.1111/cge.13554
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http://dx.doi.org/10.1111/cge.13554DOI Listing
April 2019
1 Read

An overview of the genetic basis of Epidermolysis Bullosa in Brazil: discovery of novel and recurrent disease-causing variants.

Clin Genet 2019 Apr 19. Epub 2019 Apr 19.

Postgraduate Program in Genetics and Molecular Biology, Department of Genetics, Biosciences Institute, Universidade Federal do Rio Grande do Sul, Brazil.

Epidermolysis Bullosa (EB) is a genodermatosis that encompasses a group of clinically and genetically heterogeneous disorders classified in four major types: EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB) and Kindler syndrome. Our aim was to characterize recurrent and novel mutations associated to EB in a sample of Brazilian patients. Eighty-seven patients (25 EBS, 4 JEB and 58 DEB) were studied. Read More

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http://dx.doi.org/10.1111/cge.13555DOI Listing

Trends in phenotype in the English paediatric Neurofibromatosis Type 2 cohort stratified by genetic severity.

Clin Genet 2019 Apr 16. Epub 2019 Apr 16.

Oxford NF2 Unit, Oxford University Hospitals NHS Foundation Trust.

Childhood onset neurofibromatosis type 2 can be severe and genotype dependent. We present a retrospective phenotypic analysis of all ascertained children in England Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13551
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http://dx.doi.org/10.1111/cge.13551DOI Listing
April 2019
1 Read

Clinical implications of the oncometabolite succinate in SDHx-mutation carriers.

Clin Genet 2019 Apr 12. Epub 2019 Apr 12.

Department of Endocrinology and Metabolic Diseases, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.

Succinate dehydrogenase (SDH) mutations lead to the accumulation of succinate, which acts as an oncometabolite. Germline SDHx mutations predispose to paraganglioma (PGL) and pheochromocytoma (PCC), as well as to renal cell carcinoma and gastro-intestinal stromal tumors. The SDHx genes were the first tumor suppressor genes discovered which encode for a mitochondrial enzyme, thereby supporting Otto Warburg's hypothesis in 1926 that a direct link existed between mitochondrial dysfunction and cancer. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13553
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http://dx.doi.org/10.1111/cge.13553DOI Listing
April 2019
4 Reads

Brugada Syndrome with SCN5A Mutations exhibit more pronounced electrophysiological defects and more severe prognosis: A Meta-analysis.

Clin Genet 2019 Apr 8. Epub 2019 Apr 8.

Department of Cardiovascular Medicine, the Second Affiliated Hospital of Nanchang University, Nanchang, China.

Whether the presence of SCN5A mutation is a predictor of BrS risk remains controversial, and patient selection bias may have weakened previous findings. Therefore, we performed this study to clarify the clinical characteristics and outcomes of BrS probands with SCN5A mutations. We systematically retrieved eligible studies published through October 2018. Read More

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http://dx.doi.org/10.1111/cge.13552DOI Listing
April 2019
3 Reads

Identification of disease causing variants in the EXOSC gene family underlying autosomal recessive intellectual disability in Iranian families.

Clin Genet 2019 Apr 4. Epub 2019 Apr 4.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Neurodevelopmental delay and intellectual disability (ID) can arise from numerous genetic defects. To date, variants in the EXOSC gene family have been associated with such disorders. Using next-generation sequencing (NGS), known and novel variants in this gene family causing autosomal recessive ID (ARID) have been identified in five Iranian families. Read More

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http://dx.doi.org/10.1111/cge.13549DOI Listing
April 2019
2 Reads

The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.

Clin Genet 2019 Apr 4. Epub 2019 Apr 4.

Laboratory of Medical Genetics, Harbin Medical University, Harbin 150081, P.R. China.

This retrospective study aims to investigate the diagnostic yields of multiple strategies of next-generation sequencing (NGS) for children with rare neurological disorders (NDs). A total of 220 paediatric patients with NDs who visited our hospital between Jan 2017 and Dec 2018 and had undergone NGS were included. Most patients were five years old or younger, and the number of patients visiting the hospital decreased with age. Read More

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http://dx.doi.org/10.1111/cge.13548DOI Listing
April 2019
4 Reads

Whole exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb.

Clin Genet 2019 Apr 3. Epub 2019 Apr 3.

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

Pre-axial polydactyly (PPD) is characterized by well-developed non-functional 1 digit (thumb) duplication in hands and/or feet. It is mostly inherited in autosomal dominant manner. In the present study two families of Pakistani origin, demonstrating unilateral PPD type A, have been characterized at clinical and genetic levels. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13547
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http://dx.doi.org/10.1111/cge.13547DOI Listing
April 2019
2 Reads
3.931 Impact Factor

Whole exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.

Clin Genet 2019 Apr 3. Epub 2019 Apr 3.

Lab for Stem Cell & Retinal Regeneration, Institute of Stem Cell Research; Division of Ophthalmic Genetics, The Eye Hospital, Wenzhou Medical University, Wenzhou 325027, China.

ADP-ribosylation factor-like 2 (ARL2) protein participates in a broad range of cellular processes and acts as a mediator for mutant ARL2BP in cilium-associated retinitis pigmentosa and for mutant HRG4 in mitochondria-related photoreceptor degeneration. However, mutant ARL2 has not been linked to any human disease so far. Here we identified a de novo variant in ARL2 (c. Read More

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http://dx.doi.org/10.1111/cge.13541DOI Listing
April 2019
1 Read

Consensus recommendations for diagnosis, management and treatment of Fabry disease in paediatric patients.

Clin Genet 2019 Apr 2. Epub 2019 Apr 2.

Department of Medical Genetics, CHU Bordeaux INSERM U1211, Université de Bordeaux, Bordeaux, France.

Fabry Disease (FD), a rare X-linked disease, can be treated with bi-monthly infusion of enzyme replacement therapy (ERT) to replace deficient α-galactosidase A (AGAL-A). ERT reduces symptoms, improves quality of life, and improves clinical signs and biochemical markers. ERT initiation in childhood could slow or stop progressive organ damage. Read More

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http://dx.doi.org/10.1111/cge.13546DOI Listing

Bone Dysplasias. An Atlas of Genetic Disorders of Skeletal Development (Fourth Edition).

Authors:
Pablo Lapunzina

Clin Genet 2019 Apr 1. Epub 2019 Apr 1.

Associate Editor Clinical Genetics.

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http://dx.doi.org/10.1111/cge.13501DOI Listing
April 2019
1 Read

ADA2 deficiency due to a novel structural variation in 22q11.1.

Clin Genet 2019 Mar 28. Epub 2019 Mar 28.

UOC Genetica Medica, IRCCS Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1111/cge.13518DOI Listing

Heterogeneity and overlaps in nucleotide excision repair (NER) disorders.

Clin Genet 2019 Mar 28. Epub 2019 Mar 28.

Istituto di Genetica Molecolare (IGM), Consiglio Nazionale delle Ricerche, Pavia, Italy.

Nucleotide excision repair (NER) is an essential DNA repair pathway devoted to the removal of bulky lesions such as photoproducts induced by the ultraviolet (UV) component of solar radiation. Deficiencies in NER typically result in a group of heterogeneous distinct disorders ranging from the mild UV sensitive syndrome to the cancer-prone xeroderma pigmentosum and the neurodevelopmental/progeroid conditions trichothiodystrophy, Cockayne syndrome and cerebro-oculo-facio-skeletal-syndrome. A complicated genetic scenario underlines these disorders with the same gene linked to different clinical entities as well as different genes associated with the same disease. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13545
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http://dx.doi.org/10.1111/cge.13545DOI Listing
March 2019
1 Read

Early activating somatic PIK3CA mutations promote ectopic muscle development and upper limb overgrowth.

Clin Genet 2019 Mar 28. Epub 2019 Mar 28.

Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.

PIK3CA-related Overgrowth Spectrum is a group of rare genetic disorders with asymmetric overgrowth caused by somatic mosaic PIK3CA mutations. Here, we report clinical data and molecular findings from two patients with congenital muscular upper limb overgrowth and aberrant anatomy. During debulking surgery, numerous ectopic muscles were found in the upper limbs of the patients. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13543
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http://dx.doi.org/10.1111/cge.13543DOI Listing
March 2019
5 Reads

Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: the clinical and molecular spectrum of 244 patients.

Clin Genet 2019 Mar 28. Epub 2019 Mar 28.

Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands.

In this retrospective study we conducted a clinico-genetic analysis of patients with autosomal recessive limb girdle muscular dystrophy (LGMD) and Miyoshi muscular dystrophy (MMD). Patients were identified at the tertiary referral centre for DNA diagnosis in the Netherlands and included if they carried two mutations in either CAPN3, DYSF, SGCG, SGCA, SGCB, SGCD, TRIM32, FKRP or ANO5 gene. DNA was screened by direct sequencing and multiplex ligand-dependent probe amplification (MLPA) analysis. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13544
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http://dx.doi.org/10.1111/cge.13544DOI Listing
March 2019
5 Reads

Current knowledge of medical complications in adults with achondroplasia: a scoping review.

Clin Genet 2019 Mar 27. Epub 2019 Mar 27.

Sunnaas Rehabilitation Hospital, TRS National Resource Centre for Rare Disorders, Nesoddtangen, Norway.

This article provides an overview of the current knowledge on medical complications, health characteristics, and psychosocial issues in adults with achondroplasia. We have used a scoping review methodology particularly recommended for mapping and summarizing existing research evidence, and to identify knowledge gaps. The review process was conducted in accordance with the PRISMA-ScR guidelines (Preferred Reporting Items for Systematic reviews and Meta-Analyses extension for Scoping Reviews). Read More

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http://dx.doi.org/10.1111/cge.13542DOI Listing
March 2019
1 Read

ATP1A3 mosaicism in families with alternating hemiplegia of childhood.

Clin Genet 2019 Mar 19. Epub 2019 Mar 19.

Department of Pediatrics, Peking University First Hospital, Beijing, China.

Alternating hemiplegia of childhood (AHC) is a rare and severe neurodevelopmental disorder characterized by recurrent hemiplegic episodes. Most AHC cases are sporadic and caused by de novo ATP1A3 pathogenic variants. In this study, the aim was to identify the origin of ATP1A3 pathogenic variants in a Chinese cohort. Read More

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http://dx.doi.org/10.1111/cge.13539DOI Listing
March 2019
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Identification of SLC20A2 deletions in patients with primary familial brain calcification.

Clin Genet 2019 Mar 19. Epub 2019 Mar 19.

Department of Neurology and Institute of Neurology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, China.

Primary familial brain calcification (PFBC) is a rare neurological disorder. Mutations in five genes (SLC20A2, PDGFB, PDGFRB, XPR1 and MYORG) have been linked to PFBC. Here, we used SYBR green-based real-time quantitative PCR assay and denaturing high performance liquid chromatography analysis to detect copy number variants (CNVs) in 20 unrelated patients with PFBC, negatively sequenced for the five known genes. Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13540
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http://dx.doi.org/10.1111/cge.13540DOI Listing
March 2019
1 Read

Bain type of X-linked syndromic mental retardation in boys.

Clin Genet 2019 Mar 18. Epub 2019 Mar 18.

Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital Duesseldorf, Medical Faculty, Heinrich Heine University, Duesseldorf, Germany.

A hemizygous variant in the HNRNPH2 gene causes MRXSB in a male individual. Read More

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http://dx.doi.org/10.1111/cge.13524DOI Listing
March 2019
1 Read
3.931 Impact Factor

Genome-wide association study identifies new susceptibility loci for diabetic nephropathy in Korean patients with type 2 diabetes mellitus.

Clin Genet 2019 Mar 18. Epub 2019 Mar 18.

Division of Nephrology, School of Medicine, Inje University, Busan, Republic of Korea.

Genetic factors are considered to be important in the pathogenesis of diabetic nephropathy (DN). Despite several genome-wide association studies (GWASs) demonstrating that specific polymorphisms of candidate genes were associated with DN, there were some limitations in previous studies. We conducted a GWAS using customized DNA chips to identify novel susceptibility loci for DN in Korean. Read More

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http://dx.doi.org/10.1111/cge.13538DOI Listing
March 2019
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Phenotypic spectrum of NRXN1 mono- and bi-allelic deficiency: a systematic review.

Clin Genet 2019 Mar 14. Epub 2019 Mar 14.

Interdepartmental Program "Autism 0-90", "Gaetano Martino" University Hospital, University of Messina, Messina, Italy.

Neurexins are presynaptic cell adhesion molecules critically involved in synaptogenesis and vesicular neurotransmitter release. They are encoded by three genes (NRXN1-3), each yielding a longer alpha (α) and a shorter beta (β) transcript. Deletions spanning the promoter and the initial exons of the NRXN1 gene, located in chromosome 2p16. Read More

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http://dx.doi.org/10.1111/cge.13537DOI Listing
March 2019
1 Read

Lessons from exome sequencing in prenatally diagnosed heart defects: A basis for prenatal testing.

Clin Genet 2019 May 28;95(5):582-589. Epub 2019 Mar 28.

Institute of Human Genetics, Technical University of Munich, Munich, Germany.

Congenital heart defects (CHDs) are the most common birth defect with 30%-40% being explained by genetic aberrations. With next generation sequencing becoming widely available, we sought to evaluate the clinical utility of exome sequencing (ES) in prenatally diagnosed CHD. We retrospectively analyzed the diagnostic yield as well as non-conclusive and incidental findings in 30 cases with prenatally diagnosed CHDs using ES, mostly as parent-child trios. Read More

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http://doi.wiley.com/10.1111/cge.13536
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http://dx.doi.org/10.1111/cge.13536DOI Listing
May 2019
6 Reads

Assessing optimism and pessimism about genomic medicine: Development of a genomic orientation scale.

Clin Genet 2019 Mar 14. Epub 2019 Mar 14.

Biomedical Ethics Research Program, Mayo Clinic, Rochester, Minnesota.

Efforts to characterize stakeholder attitudes about the implementation of genomic medicine would benefit from a validated instrument for measuring public views of the potential benefits and harms of genomic technologies, which would facilitate comparison across populations and clinical settings. We sought to develop a scale to evaluate attitudes about the future of genomic medicine. We developed a 21-item scale that examined the likelihood of various outcomes of genomic medicine. Read More

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http://doi.wiley.com/10.1111/cge.13535
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http://dx.doi.org/10.1111/cge.13535DOI Listing
March 2019
3 Reads

Delineation of dominant and recessive forms of LZTR1-associated Noonan syndrome.

Clin Genet 2019 Mar 12. Epub 2019 Mar 12.

Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.

Noonan syndrome (NS) is characterised by distinctive facial features, heart defects, variable degrees of intellectual disability and other phenotypic manifestations. Although the mode of inheritance is typically dominant, recent studies indicate LZTR1 may be associated with both dominant and recessive forms. Seeking to describe the phenotypic characteristics of LZTR1-associated NS, we searched for likely pathogenic variants using two approaches. Read More

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http://dx.doi.org/10.1111/cge.13533DOI Listing
March 2019
2 Reads

Genetic counselors' preferences for coverage of preimplantation genetic diagnosis: A discrete choice experiment.

Clin Genet 2019 Mar 11. Epub 2019 Mar 11.

Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada.

Preimplantation genetic diagnosis (PGD) allows couples to test for a genetically affected embryo prior to implantation. Patient access to this ethically complex and expensive technology differs markedly across jurisdictions, with differences in private/public insurance coverage and variations in patient inclusion and diagnostic criteria. The objective of the study was to identify trade-offs regarding PGD coverage decisions amongst genetic counselors. Read More

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http://dx.doi.org/10.1111/cge.13531DOI Listing
March 2019
2 Reads

Exome sequencing in Crisponi/cold-induced sweating syndrome-like individuals reveals unpredicted alternative diagnoses.

Clin Genet 2019 May 28;95(5):607-614. Epub 2019 Mar 28.

Istituto di Ricerca Genetica e Biomedica, Consiglio Nazionale delle Ricerche (CNR), Monserrato, Cagliari, Italy.

Crisponi/cold-induced sweating syndrome (CS/CISS) is a rare autosomal recessive disorder characterized by a complex phenotype (hyperthermia and feeding difficulties in the neonatal period, followed by scoliosis and paradoxical sweating induced by cold since early childhood) and a high neonatal lethality. CS/CISS is a genetically heterogeneous disorder caused by mutations in CRLF1 (CS/CISS1), CLCF1 (CS/CISS2) and KLHL7 (CS/CISS-like). Here, a whole exome sequencing approach in individuals with CS/CISS-like phenotype with unknown molecular defect revealed unpredicted alternative diagnoses. Read More

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http://doi.wiley.com/10.1111/cge.13532
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http://dx.doi.org/10.1111/cge.13532DOI Listing
May 2019
9 Reads

Uncertainty, hope, and coping efficacy among mothers of children with Duchenne/Becker muscular dystrophy.

Clin Genet 2019 Mar 7. Epub 2019 Mar 7.

RTI International, Research Triangle Park, North Carolina.

Uncertainty is a challenging aspect of caring for children with Duchenne/Becker muscular dystrophies (DBMD). Although uncertainty is often perceived as a state to be avoided, hope may influence caregivers' perceptions of uncertainty as opportunity. The goal of this cross-sectional quantitative study was to pilot a novel measure of state-based hope, and test relationships among uncertainty, hope, spirituality, and coping efficacy in mothers of children with DBMD. Read More

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http://dx.doi.org/10.1111/cge.13528DOI Listing
March 2019
1 Read

A novel gene (FAM20B encoding glycosaminoglycan xylosylkinase) for neonatal short limb dysplasia resembling Desbuquois dysplasia.

Clin Genet 2019 Mar 7. Epub 2019 Mar 7.

Division of Medical Genetics, Kanagawa Children's Medical Center, Yokohama, Japan.

Desbuquois dysplasia (DBQD) is an autosomal recessive heterogeneous disorder characterized by joint laxity and skeletal changes, including a distinctive monkey-wrench appearance of the femora, advanced carpal ossification, and abnormal patterning of the preaxial digits. Two genes for DBQD (CANT1 encoding calcium-activated nucleotidase-1 and XYLT1 encoding xylosyltransferase-1) have been reported. We propose a novel gene for neonatal short limb dysplasia resembling DBQD, based on the phenotype and genotype of two affected siblings. Read More

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http://dx.doi.org/10.1111/cge.13530DOI Listing
March 2019
1 Read

Generality of genomic findings on blood pressure traits and its usefulness in precision medicine in diverse populations: A systematic review.

Clin Genet 2019 Feb 28. Epub 2019 Feb 28.

Department of Epidemiology, School of Public Health, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Remarkable findings from genome-wide association studies (GWAS) on blood pressure (BP) traits have made new insights for developing precision medicine toward more effective screening measures. However, generality of GWAS findings in diverse populations is hampered by some technical limitations. There is no comprehensive study to evaluate source(s) of the non-generality of GWAS results on BP traits, so to fill the gap, this systematic review study was carried out. Read More

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http://dx.doi.org/10.1111/cge.13527DOI Listing
February 2019

Telomeropathies: Etiology, diagnosis, treatment and follow-up. Ethical and legal considerations.

Clin Genet 2019 Feb 28. Epub 2019 Feb 28.

Laboratory of Molecular Oncology, Universidad Nacional de Quilmes, Buenos Aires, Argentina.

Telomeropathies involve a wide variety of infrequent genetic diseases caused by mutations in the telomerase maintenance mechanism or the DNA damage response (DDR) system. They are considered a family of rare diseases that often share causes, molecular mechanisms and symptoms. Generally, these diseases are not diagnosed until the symptoms are advanced, diminishing the survival time of patients. Read More

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http://dx.doi.org/10.1111/cge.13526DOI Listing
February 2019
1 Read

DNAH2 is a novel candidate gene associated with multiple morphological abnormalities of the sperm flagella.

Clin Genet 2019 May 25;95(5):590-600. Epub 2019 Mar 25.

State Key Laboratory of Cellular Stress Biology, School of Pharmaceutical Sciences, Xiamen University, Xiamen, China.

Multiple morphological abnormalities of flagella (MMAF) is one kind of severe teratozoospermia. Gene mutations reported in previous works only revealed the pathogenesis of approximately half of the MMAF cases, and more genetic defects in MMAF need to be explored. In the present study, we performed a genetic analysis on Han Chinese men with MMAF using whole-exome sequencing. Read More

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http://dx.doi.org/10.1111/cge.13525DOI Listing
May 2019
4 Reads
3.931 Impact Factor

PKD1L1-related situs inversus associated with sideroblastic anemia.

Clin Genet 2019 May 21;95(5):629-630. Epub 2019 Feb 21.

Genetics and Genome Biology Program, The Hospital for Sick Children, Toronto, Ontario, Canada.

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http://dx.doi.org/10.1111/cge.13512DOI Listing
May 2019
1 Read

Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.

Clin Genet 2019 May 19;95(5):601-606. Epub 2019 Mar 19.

Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, Ontario, Canada.

The GTPBP2 gene encodes a guanosine triphosphate (GTP)-binding protein of unknown function. Biallelic loss-of-function variants in the GTPBP2 gene have been previously reported in association with a neuro-ectodermal clinical presentation in six individuals from four unrelated families. Here, we provide detailed descriptions of three additional individuals from two unrelated families in the context of the previous literature. Read More

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http://dx.doi.org/10.1111/cge.13523DOI Listing

Characterizing the phenotypic effect of Xq28 duplication size in MECP2 duplication syndrome.

Clin Genet 2019 May 15;95(5):575-581. Epub 2019 Mar 15.

Department of Pediatrics, University of Alabama at Birmingham, Birmingham, Alabama.

Individuals with methyl CpG binding protein 2 (MECP2) duplication syndrome (MDS) have varying degrees of severity in their mobility, hand use, developmental skills, and susceptibility to infections. In the present study, we examine the relationship between duplication size, gene content, and overall phenotype in MDS using a clinical severity scale. Other genes typically duplicated within Xq28 (eg, GDI1, RAB39B, FLNA) are associated with distinct clinical features independent of MECP2. Read More

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http://dx.doi.org/10.1111/cge.13521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465105PMC
May 2019
1 Read

Systematic review of quality of life in persons with hereditary thoracic aortic aneurysm and dissection diagnoses.

Clin Genet 2019 Feb 20. Epub 2019 Feb 20.

Departments of Social Work, Child Welfare and Social Policy, Faculty of Social Sciences, Metropolitan University of Oslo, Norway.

The purpose of this study was to explore the literature on quality of life (QoL) in patients with hereditary thoracic aortic aneurysm and dissection (HTAAD); including Marfan syndrome (MFS), Loeys-Dietz syndrome (LDS), vascular Ehlers-Danlos syndrome (vEDS) and other HTAAD diagnoses, critically appraising and synthesizing the relevant literature. A systematic review was performed by searching the published literature using available medical, physical, psychological, social databases and other sources. Studies addressing QoL in persons with an HTAAD diagnosis, published in peer-reviewed journals were assessed. Read More

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http://doi.wiley.com/10.1111/cge.13522
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http://dx.doi.org/10.1111/cge.13522DOI Listing
February 2019
5 Reads

Clinical and genetic characterization of a cohort of Chinese patients with hereditary spastic paraplegia.

Clin Genet 2019 May 19;95(5):637-639. Epub 2019 Feb 19.

Department of Neurology, Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.

Pedigree chart of hereditary spastic paraplegia (HSP) patients and chromatogram of novel mutations. A. Pedigree chart of 12 Chinese HSP families with mutation. Read More

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http://dx.doi.org/10.1111/cge.13517DOI Listing
May 2019
1 Read

ADAMTSL1 and mandibular prognathism.

Clin Genet 2019 Apr;95(4):507-515

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
April 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 Apr 28;95(4):542-543. 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
April 2019
6 Reads

Expanding the clinical spectrum associated with PACS2 mutations.

Clin Genet 2019 Apr 28;95(4):525-531. Epub 2019 Feb 28.

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 (CNS) 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
April 2019
2 Reads

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

Clin Genet 2019 Apr 18;95(4):462-478. Epub 2019 Feb 18.

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
April 2019
3 Reads

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
11 Reads

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype.

Clin Genet 2019 Apr;95(4):496-506

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
April 2019
22 Reads

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

Clin Genet 2019 Apr 12;95(4):479-487. Epub 2019 Feb 12.

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
April 2019
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Newly identified set of obesity-related genotypes and abdominal fat influence the risk of insulin resistance in a Korean population.

Clin Genet 2019 Apr 10;95(4):488-495. Epub 2019 Feb 10.

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
April 2019
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Difficulties and challenges in the development of precision medicine.

Clin Genet 2019 May 14;95(5):569-574. Epub 2019 Feb 14.

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
May 2019
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Clinical and molecular diagnosis of non-phosphomannomutase 2 N-linked congenital disorders of glycosylation in Spain.

Clin Genet 2019 May 3;95(5):615-626. Epub 2019 Apr 3.

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

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. Phosphomannomutase 2 (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
May 2019
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Hypermobile Ehlers-Danlos-like syndrome in Fabry disease.

Clin Genet 2019 May 15;95(5):627-628. 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
May 2019
4 Reads