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    1 OF 153

    Patient outcomes of genetic counseling: assessing the impact of different approaches to family history collection.
    Clin Genet 2017 Nov 14. Epub 2017 Nov 14.
    Department of Psychiatry, University of British Columbia, Vancouver, Canada.
    No studies have evaluated whether different modalities for collection of family history data influence patient outcomes of genetic counseling. We retrospectively compared outcomes of genetic counseling between patients whose family history (Fhx) was collected: a) via telephone prior to their appointment (FhxPrior), or b) during the appointment (FhxDuring). We used a psychiatric genetic counseling clinic database, where information about demographics and Fhx timing is recorded and patients complete the Genetic Counseling Outcomes Scale (GCOS, measuring empowerment) and Illness Management Self-Efficacy Scale (IMSES) immediately prior to (T1) and one-month after their appointment (T2). Read More

    Genetic prediction of type 2 diabetes using deep neural network.
    Clin Genet 2017 Nov 14. Epub 2017 Nov 14.
    Division of Diabetes, Metabolism, and Endocrinology, Department of Medicine, Baylor College of Medicine, Houston, TX, USA.
    Type 2 diabetes (T2DM) has strong heritability but genetic models to explain heritability have been challenging. We tested deep neural network (DNN) to predict T2DM using the nested case-control study of Nurses' Health Study (3,326 females, 45.6% T2DM) and Health Professionals Follow-up Study (2,502 males, 46. Read More

    A critical appraisal of pharmacogenetic inference.
    Clin Genet 2017 Nov 14. Epub 2017 Nov 14.
    Department of Cardiology, Leiden University Medical Center, Leiden, The Netherlands.
    In essence, pharmacogenetic research is aimed at discovering variants of importance to gene-treatment interaction. However, epidemiological studies are rarely set up with this goal in mind. It is therefore of great importance that researchers clearly communicate which assumptions they have had to make, and which inherent limitations apply to the interpretation of their results. Read More

    Homozygous XYLT2 variants as a cause of spondyloocular syndrome.
    Clin Genet 2017 Nov 14. Epub 2017 Nov 14.
    Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
    Spondyloocular syndrome (SOS) is a rare autosomal recessive skeletal disorder. Two recent studies have shown that it is the result of biallelic sequence variants in the XYLT2 gene with pleiotropic effects in multiple organs including retina, heart muscle, inner ear, cartilage, and bone. The XYLT2 gene encodes xylosyltransferase 2, which catalyzes the transfer of xylose (monosaccharide) to the core protein of proteoglycans (PG) leading to initiating the process of proteoglycan assembly. Read More

    FOXE3 mutations: genotype-phenotype correlations.
    Clin Genet 2017 Nov 14. Epub 2017 Nov 14.
    Service de Génétique Médicale, Hôpital Purpan, CHU Toulouse, Toulouse, France.
    Microphthalmia and anophthalmia (MA) are severe developmental eye anomalies, many of which are likely to have an underlying genetic cause. More than 30 genes have been described, each of which is responsible for a small percentage of these anomalies. Amongst these, is the FOXE3 gene, which was initially described in individuals with dominantly inherited anterior segment dysgenesis and, subsequently, associated with recessively inherited primary aphakia, sclerocornea and microphthalmia. Read More

    Diagnosis and genetics of alacrima.
    Clin Genet 2017 Nov 9. Epub 2017 Nov 9.
    Baylor College of Medicine, Department of Molecular and Human Genetics, Houston, Texas, USA.
    Alacrima, the lack of tears, is a rare clinical finding that has been reported as a feature of multiple genetic disorders and can serve as a diagnostic clue to some rare conditions. Causes of alacrima range from absence/hyposecretion of tears to agenesis or improper development of lacrimal gland ducts and associated structures. There are 13 known heritable disorders featuring varying degrees and causes of alacrima. Read More

    Review of Patient Decision-Making Factors and Attitudes Regarding Preimplantation Genetic Diagnosis.
    Clin Genet 2017 Nov 9. Epub 2017 Nov 9.
    Department of Obstetrics/Gynecology and Reproductive Medicine, Stony Brook Medicine, Stony Brook, New York, USA.
    The increasing technical complexity and evolving options for repro-genetic testing have direct implications for information processing and decision-making, yet the research among patients considering preimplantation genetic diagnosis (PGD) is narrowly focused. This review synthesizes the literature regarding patient PGD decision-making factors, and illuminates gaps for future research and clinical translation. Twenty-five articles met the inclusion criteria for evaluating experiences and attitudes of patients directly involved in PGD as an intervention or considering using PGD. Read More

    A novel nonsense variant in REEP6 is involved in a sporadic rod-cone dystrophy case.
    Clin Genet 2017 Nov 9. Epub 2017 Nov 9.
    Sorbonne Universités, UPMC Univ Paris 06, INSERM, CNRS, Institut de la Vision, Paris, France.
    Rod-cone dystrophy (RCD), also called retinitis pigmentosa, is the most common form of progressive inherited retinal disorders secondary to photoreceptor degeneration. It is a genetically heterogeneous disease characterized by night blindness, followed by visual field constriction and, in most severe cases, total blindness. The aim of our study was to identify the underlying gene defect leading to severe RCD in a 60-year-old woman. Read More

    Biallelic Mutations in Mitochondrial Tryptophanyl-tRNA Synthetase Cause Levodopa-Rresponsive Infantile-Onset Parkinsonism.
    Clin Genet 2017 Nov 9. Epub 2017 Nov 9.
    NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, NIH and NHGRI NIH, Bethesda, Maryland, USA.
    Mitochondrial aminoacyl-tRNA synthetases (mtARSs) are essential, ubiquitously expressed enzymes that covalently attach amino acids to their corresponding tRNA molecules during translation of mitochondrial genes. Deleterious variants in the mtARS genes cause a diverse array of phenotypes, many of which involve the nervous system. Moreover, distinct mutations in mtARSs often cause different clinical manifestations. Read More

    Richieri-Costa-Pereira syndrome: expanding its phenotypic and genotypic spectrum.
    Clin Genet 2017 Nov 7. Epub 2017 Nov 7.
    Instituto Biociências - Universidade de São Paulo, SP, Brazil.
    Richieri-Costa-Pereira syndrome is a rare autosomal recessive acrofacial dysostosis that has been mainly described in Brazilian individuals. The cardinal features include Robin sequence, cleft mandible, laryngeal anomalies and limb defects. A biallelic expansion of a complex repeated motif in the 5' untranslated region of EIF4A3 has been shown to cause this syndrome, commonly with 15 or 16 repeats. Read More

    Variants in CIB2 cause DFNB48 and not USH1J.
    Clin Genet 2017 Nov 7. Epub 2017 Nov 7.
    Molecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology- Head and Neck Surgery, University of Iowa, Iowa City, Iowa.
    The genetic, mutational and phenotypic spectrum of deafness-causing genes shows great diversity and pleiotropy. The best examples are the group of genes, which when mutated can either cause non-syndromic hearing loss (NSHL) or the most common dual sensory impairment, Usher Syndrome (USH). Variants in the CIB2 gene have been previously reported to cause of hearing loss at the DFNB48 locus and deaf-blindness at the USH1J locus. Read More

    Epidemiology of Huntington Disease in Cyprus: A 20-Year Retrospective Study.
    Clin Genet 2017 Nov 6. Epub 2017 Nov 6.
    Neurology Clinic D, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
    Huntington disease (HD) is most prevalent among populations of western European descent and isolated populations where founder effects may operate. The aim of this study was to examine the epidemiology of HD in Cyprus, an island in southern Europe with extensive western European colonization in the past. All registered HD patients in the Cyprus Republic, since 1994, were included. Read More

    Conversations with French Medical Geneticists. A Personal Perspective on the Origins and Early Years of Medical Genetics in France.
    Clin Genet 2017 Nov 3. Epub 2017 Nov 3.
    University Research Professor (Emeritus) in Human Genetics, Cardiff University, United Kingdom of Great Britain and Northern Ireland.
    The history of the beginnings of medical genetics in France is discussed, based on the personal perspective provided by recorded interviews with 16 early French workers in the field. The weakness of French genetics overall up to the beginning of the Second World War meant that post-war medical genetics had to start from new, with its origins largely derived from the medical fields of child health and the prevention of genetic disorders, rather than from basic science. The key people responsible for initiating these developments were Robert Debré and Maurice Lamy at Hôpital Necker in Paris and those interviewed included a number of their colleagues and successors, including Jean Frézal, Pierre Maroteaux, Josué Feingold, André and Joelle Boué, and Jean-Claude Kaplan. Read More

    Homozygous Mutation in ELMO2 may cause Ramon syndrome.
    Clin Genet 2017 Nov 2. Epub 2017 Nov 2.
    Institut Jérôme Lejeune, Paris, France.
    We report on a girl, born to first cousin Lebanese parents, with intellectual disability, seizures, repeated gingivorrhagia, enlarged lower and upper jaws, overgrowth of the gums, high arched and narrow palate, crowded teeth, hirsutism of the back, large abdomen and a small umbilical hernia. Cysts of the mandible, fibrous dysplasia of bones, and enlarged adenoids causing around 60% narrowing of the nasopharyngeal airways were noted at radiographic examination. Her brother presented with the same features in addition to a short stature, an ostium secundum, and more pronounced intellectual disability. Read More

    Biallelic mutations in FLNB cause a skeletal dysplasia with 46,XY gonadal dysgenesis by activating β-catenin.
    Clin Genet 2017 Nov 2. Epub 2017 Nov 2.
    Departments of Pathology and Radiology, Albert Einstein College of Medicine and Montefiore Medical Center, Bronx, NY.
    Filamin B (FLNB) functions as a switch that can affect chrondrocyte development and endochondral bone formation through a series of signaling molecules and transcription factors that also affect Sertoli cell development. Here, we report a subject with a novel skeletal dysplasia and co-existing 46,XY gonadal dysgenesis and biallelic mutations in FLNB. Whole exome sequencing was performed to identify mutations. Read More

    Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.
    Clin Genet 2017 Oct 27. Epub 2017 Oct 27.
    Department of Immunology, University Hospital Southampton NHSFT, Southampton, UK.
    Primary immunodeficiencies (PIDs) are rare monogenic inborn errors of immunity that result in impairment of functions of the human immune system. PIDs have a broad phenotype with increased morbidity and mortality and treatment choices are often complex. With increased accessibility of next-generation sequencing the rate of discovery of genetic causes for PID has increased exponentially. Read More

    Genetic Profile and Mutation Spectrum of Leber Congenital Amaurosis in a Larger Indian Cohort using High Throughput Targeted Re-sequencing.
    Clin Genet 2017 Oct 25. Epub 2017 Oct 25.
    SNONGC Department of Genetics and Molecular Biology, Vision Research Foundation, Chennai, Tamil Nadu, India.
    The prevalence of mutations in Leber congenital amaurosis (LCA) candidate genes varies in different populations and comprehensive data from a larger Indian cohort on known candidate genes is still unavailable. Ninety-two subjects were recruited after complete ophthalmic examination and informed consent. Targeted re-sequencing of 20 candidate genes was performed using Agilent HaloPlex target enrichment assay and sequenced on Ilumina MiSeq platform. Read More

    Array-CGH Analysis in Patients with Müllerian Fusion Anomalies.
    Clin Genet 2017 Oct 25. Epub 2017 Oct 25.
    Institute of Human Genetics, WWU, 48149, Münster, Germany.
    Fusion anomalies of the Müllerian ducts are associated with an increased risk for miscarriage and premature labor. In most cases polygenic-multifactorial inheritance can be assumed but autosomal-dominant inheritance with reduced penetrance and variable manifestation should be considered. We performed array-CGH (comparative genomic hybridization) analysis in a cohort of 103 patients with Müllerian fusion anomalies. Read More

    Utility of Genetics for Risk Stratification in Pediatric Hypertrophic Cardiomyopathy.
    Clin Genet 2017 Oct 20. Epub 2017 Oct 20.
    Division of Cardiology, Department of Pediatrics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada, M5G 1X8.
    Children with hypertrophic cardiomyopathy (HCM) experience sudden cardiac death (SCD) and other life-threatening events. We assessed if affected gene and variant burden predict outcomes. Patients <18 years old with primary HCM with a pathogenic variant or variant of uncertain significance in cardiomyopathy genes were included. Read More

    Identification of the first homozygous 1-bp deletion in GDF9 gene leading to primary ovarian insufficiency by using targeted massively parallel sequencing.
    Clin Genet 2017 Oct 16. Epub 2017 Oct 16.
    Unidade de Endocrinologia do Desenvolvimento, Laboratório de Hormônios e Genética Molecular/LIM42, Hospital das Clínicas, Disciplina de Endocrinologia, Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
    Targeted massively parallel sequencing (TMPS) has been used in genetic diagnosis for Mendelian disorders. In the past few years, the TMPS has identified new and already described genes associated with primary ovarian insufficiency phenotype. Here, we performed a targeted gene sequencing to find a genetic diagnosis in idiopathic cases of Brazilian POI cohort. Read More

    Molecular analysis and genotype-phenotype correlation of Diamond-Blackfan anemia.
    Clin Genet 2017 Oct 16. Epub 2017 Oct 16.
    Program in Genetics and Genome Biology, Research Insti tute, Hospital for Sick Children, Canada.
    Diamond-Blackfan anemia (DBA) features hypoplastic anemia and congenital malformations, largely caused by mutations in various ribosomal proteins. The aim of this study was to characterize the spectrum of genetic lesions causing DBA and identify genotypes that correlate with phenotypes of clinical significance. Seventy-four patients with DBA from across Canada were included. Read More

    Cell-free DNA noninvasive prenatal screening for aneuploidy versus conventional screening: a systematic review of economic evaluations.
    Clin Genet 2017 Oct 14. Epub 2017 Oct 14.
    Département de médecine sociale et préventive, Faculté de médecine, Université Laval, Québec, QC, Canada.
    Although non-invasive prenatal testing (NIPT) for aneuploidies using cell free fetal DNA in maternal blood has been reported to have a high accuracy, only little evidence about its cost effectiveness is available. We systematically reviewed and assessed quality of economic evaluation studies published between 1st January 2009 and 1st January 2016 where NIPT was compared to the current screening practices consisting of biochemical markers with or without nuchal translucency (NT) and/or maternal age). We included 16 studies and we found that, at current level of NIPT prices, contingent NIPT provide the best value for money, especially for publicly funded screening programs. Read More

    First direct evidence of involvement of a homozygous loss-of-function variant in the EPS15L1 gene underlying split-hand/split-foot malformation.
    Clin Genet 2017 Oct 10. Epub 2017 Oct 10.
    Department of Biochemistry, Faculty of Biological Sciences, Quaid-i-Azam University, Islamabad, Pakistan.
    Split-hand/split-foot malformation (SHFM) is a severe form of congenital limb deformity characterized by the absence of one or more digits and/or variable degree of median clefts of hands and feet. The present study describes an investigation of a consanguineous family of Pakistani origin segregating SHFM in an autosomal recessive manner. Human genome scan using SNP markers followed by whole exome sequencing revealed a frameshift deletion (c. Read More

    Genetics in Pulmonary Arterial Hypertension in a Large Homogeneous Japanese Population.
    Clin Genet 2017 Oct 10. Epub 2017 Oct 10.
    Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan.
    Pulmonary arterial hypertension (PAH) is a rare but serious disease with a grave prognosis. Bone morphogenetic protein type 2 receptor (BMPR2) gene is a strong pathogenic factor for PAH. As a collaborative team from Kyorin University and Keio University in Japan, we have analyzed the BMPR2 gene in 356 probands and more than 50 family members, including secondary patients. Read More

    Clinician's guide to genes associated with Rett-like phenotypes - Investigation of a Danish cohort and review of the literature.
    Clin Genet 2017 Oct 10. Epub 2017 Oct 10.
    Applied Human Molecular Genetics, Kennedy Center, Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Glostrup, Denmark.
    The differential diagnostics in Rett syndrome has evolved with the development of next generation sequencing based techniques and many patients have been diagnosed with other syndromes or variants in newly described genes where the associated phenotype(s) is yet to be fully explored. The term Rett-like refers to phenotypes with distinct overlapping features of Rett syndrome where the clinical criteria are not completely fulfilled. In this paper we have combined a review of Rett-like disorders with data from a Danish cohort of 35 patients with Rett-like phenotypes emphasizing the diagnostic overlap with Pitt-Hopkins syndrome, Cornelia de Lange syndrome with SMC1A variants, and epileptic encephalopathies for example due to STXBP1 variants. Read More

    Response to Lefebvre et al.
    Clin Genet 2017 Nov;92(5):563-564
    Laboratory of Bone and Joint Diseases, Center for Integrative Medical Sciences, RIKEN, Tokyo, Japan.
    Congenital scoliosis (CS) is a common vertebral malformation with incidence of up to 1 of 1000 births worldwide. Recently, TBX6 has been reported as the first disease gene for CS: about 10% of CS patients are compound heterozygotes of rare null mutations and a common haplotype composed by 3 SNPs in TBX6. Lefebvre et al in this journal reported that 2 patients with spondylocostal dysostosis (SCD), a rare skeletal dysplasia affecting spine and ribs also have TBX6 mutations: 1 carried the microdeletion and a rare missense variant, and another 2 rare missense variants. Read More

    Prader-Willi Syndrome Genetic Subtypes and Clinical Neuropsychiatric Diagnoses in Residential Care Adults.
    Clin Genet 2017 Oct 6. Epub 2017 Oct 6.
    Departments of Psychiatry & Behavioral Sciences and Pediatrics, University of Kansas Medical Center, Kansas City, KS, USA.
    The historical diagnosis of Prader-Willi syndrome (PWS), a complex genetic disorder, in adults by clinical presentation rather than genetic testing has limited genetic subtype-specific psychometric investigations and treatment. Genetic testing and clinical psychiatric evaluation using DSM-IV-TR criteria were undertaken on 72 adult residents (34M; 38F) from the Prader-Willi Homes of Oconomowoc (PWHO), a specialty PWS group home system. Methylation specific-multiplex ligation probe amplification and high-resolution microarrays were analyzed for methylation status, 15q11-q13 deletions and maternal uniparental disomy 15 (mUPD15). Read More

    Digenic inheritance and genetic modifiers.
    Clin Genet 2017 Oct 4. Epub 2017 Oct 4.
    College of Medicine, Qatar University, Doha, Qatar and Molecular Medicine Research Center, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus.
    Digenic inheritance (DI) concerns pathologies with the simplest form of multigenic aetiology, implicating more than one gene (and perhaps the environment). True DI is when biallelic or even triallelic mutations in two distinct genes, in cis or in trans, are necessary and sufficient to cause pathology with a defined diagnosis. In true DI, a heterozygous mutation in each of two genes alone is not associated with a recognizable phenotype. Read More

    WNT10A gene is the second molecular candidate in a cohort of young Italian subjects with ectodermal derivative impairment (EDI).
    Clin Genet 2017 Oct 4. Epub 2017 Oct 4.
    Department of Pediatrics, Luigi Sacco Hospital, Università degli Studi di Milano, Milano, Italy.
    Ectodermal dysplasias are a group of genetic disorders defined by ectodermal derivative impairment (EDI). To test the impact of the Wnt/beta-catenin pathway in the genetic screening of EDI, we performed a molecular gene study of WNT10A in 60 subjects from a population of 133 young Italian patients referred for the impairment of at least one major ectodermal-derived structure and who had a previous negative molecular screen for ectodysplasin signaling pathway genes ED1, EDAR, and EDARADD. Fourteen WNT10A mutations were identified in 33 subjects (24. Read More

    A novel missense mutation affecting the same amino acid as the recurrent PACS1 mutation in Schuurs-Hoeijmakers syndrome.
    Clin Genet 2017 Oct 4. Epub 2017 Oct 4.
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
    A novel causative variant (c.608G>A, p.Arg203Gln) in PACS1. Read More

    Axenfeld-Rieger syndrome.
    Clin Genet 2017 Oct 3. Epub 2017 Oct 3.
    Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada.
    Axenfeld-Rieger syndrome (ARS) is a clinically and genetically heterogeneous group of developmental disorders affecting primarily the anterior segment of the eye, often leading to secondary glaucoma. Patients with ARS may also present with systemic changes including dental defects, mild craniofacial dysmorphism, and umbilical anomalies. ARS is inherited in an autosomal dominant fashion; the underlying defect in 40% of patients is mutations in PITX2 or FOXC1. Read More

    MLEC gene polymorphisms promote cerebral palsy via M2-like macrophage polarization.
    Clin Genet 2017 Oct 3. Epub 2017 Oct 3.
    Prenatal Diagnosis Center, Taizhou Hospital of Zhejiang Province, Taizhou, Zhejiang Province, 371000, P.R.China.
    The relationship between gene polymorphisms and the pathogenesis of cerebral palsy (CP) is uncovering recently. Here, we suggested that single nucleotide polymorphisms (SNPs) of MLEC gene might take part in the pathogenesis of CP. We genotyped and analyzed six SNP positions of MLEC gene in 916 CP patients and 957 healthy people, which are from the Chinese Han population. Read More

    Autism spectrum disorder recurrence, resulting of germline mosaicism for a CHD2 gene missense variant.
    Clin Genet 2017 Dec 28;92(6):669-670. Epub 2017 Sep 28.
    Inserm, U1016, Institut Cochin, Paris, France.
    Germline mosaicism for a novel missense variant p.Thr645Met located in the SNF2-related ATP dependent helicase domain of CHD2 in 2 affected siblings with autism spectrum disorder. Read More

    Genomic disorders 20 years on - mechanisms for clinical manifestations.
    Clin Genet 2017 Sep 26. Epub 2017 Sep 26.
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.
    Genomic disorders result from copy number variants (CNVs) or submicroscopic rearrangements of the genome rather than from single nucleotide variants (SNVs). Diverse technologies, including array comparative genomic hybridization (aCGH) and, more recently, whole genome sequencing and whole exome sequencing, have enabled robust genome-wide unbiased detection of CNVs in affected individuals and in reportedly healthy controls. Sequencing of breakpoint junctions has allowed for elucidation of upstream mechanisms leading to genomic instability and resultant structural variation, whereas studies of the association between CNVs and specific diseases or susceptibility to morbid traits have enhanced our understanding of the downstream effects. Read More

    Hypoglycaemia Represents a Clinically Significant Manifestation of PIK3CA- and CCND2-Associated Segmental Overgrowth.
    Clin Genet 2017 Sep 23. Epub 2017 Sep 23.
    Manchester Centre for Genomic Medicine, St Mary's Hospital, Central Manchester University Hospitals, NHS Foundation Trust Manchester Academic Health Sciences Centre.
    The PI3K-AKT signalling cascade has a highly conserved role in a variety of processes including cell growth and glucose homoeostasis. Variants affecting this pathway can lead to one of several segmental overgrowth disorders. These conditions are genetically heterogeneous and require tailored, multidisciplinary involvement throughout life. Read More

    Detection of copy number variations in epilepsy using exome data.
    Clin Genet 2017 Sep 22. Epub 2017 Sep 22.
    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
    Epilepsies are common neurological disorders and genetic factors contribute to their pathogenesis. Copy number variations (CNVs) are increasingly recognized as an important etiology of many human diseases including epilepsy. Whole exome sequencing (WES) is becoming a standard tool for detecting pathogenic mutations and has recently been applied to detecting CNVs. Read More

    INPP5K variant causes autosomal recessive congenital cataract in a Pakistani family.
    Clin Genet 2017 Sep 22. Epub 2017 Sep 22.
    Department of Otorhinolaryngology-Head and Neck Surgery, School of Medicine University of Maryland, Baltimore, MD, USA.
    Congenital cataract (CC) is clinically and genetically highly heterogeneous. Here, we enrolled a consanguineous kindred (LUCC15) from Pakistan, with three affected individuals suffering with CC. Exome sequencing revealed a transition mutation [c. Read More

    Expanding the phenotype of DNAJC3 mutations: A case with hypothyroidism additionally to diabetes mellitus and multisystemic neurodegeneration.
    Clin Genet 2017 Nov 21;92(5):561-562. Epub 2017 Sep 21.
    Department of Neurology, Klinikum rechts der Isar, Technische Universität München, Munich, Germany.
    Identification of this additional patient from a distant part of the originally described pedigree (Synofzik et al. 2014) confirms pathogenicity of DNAJC3 mutations. Hypothyroidism is a newly identified feature in addition to the known phenotype (diabetes with multisystemic neurodegeneration). Read More

    Novel 9 amino acid in-frame deletion in the NTRK1 tyrosine kinase domain in a patient with congenital insensitivity to pain with anhydrosis.
    Clin Genet 2017 Nov 21;92(5):559-560. Epub 2017 Sep 21.
    Paediatric Neurology, University Hospitals Bristol, Bristol, UK.
    Schematic presentation of NTRK1 protein structure. Variants identified in this study are shown in red and previously reported variants associated with CIPA are shown in black (LRM, leucine rich motif; Ig, immunoglobulin-like domain; TM, transmembrane domain; TK, tyrosine kinase domain). Read More

    Common variants in DLG1 locus are associated with non-syndromic cleft lip with or without cleft palate.
    Clin Genet 2017 Sep 19. Epub 2017 Sep 19.
    Department of Biochemistry and Molecular Biology, Poznan University of Medical Sciences, Poznan, Poland.
    Non-syndromic cleft lip with or without cleft palate (nsCL/P) is a common craniofacial anomaly with a complex and heterogeneous etiology. Knowledge regarding specific genetic factors underlying this birth defect is still not well understood. Therefore, we conducted an independent replication analysis for the top-associated variants located within the DLG1 locus at chromosome 3q29, which was identified as a novel cleft-susceptibility locus in our genome-wide association study (GWAS). Read More

    Management of Leigh Syndrome: current status and new insights.
    Clin Genet 2017 Sep 14. Epub 2017 Sep 14.
    Department of Medicine, the University of Hong Kong, Hong Kong SAR, P. R. China.
    Leigh syndrome (LS) is an inherited mitochondrial encephalopathy associated with gene mutations of oxidative phosphorylation(OXPHOS) pathway that result in early disability and death in affected young children. Currently, LS is incurable and unresponsive to many treatments, although some case reports indicate that supplements can improve the condition. Many novel therapies are being continuously tested in preclinical studies. Read More

    TSGA10 is a novel candidate gene associated with acephalic spermatozoa.
    Clin Genet 2017 Sep 14. Epub 2017 Sep 14.
    Central Laboratory, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Chaoyang, Beijing, 100026, China.
    Acephalic spermatozoa is a rare teratozoospermia associated with male infertility. However, the pathogenesis of this disorder remains unclear. Here, we report a 27-year-old infertile male from a consanguineous family, who presented with 99% headless sperm in his ejaculate. Read More

    Genetic and Epigenetic Insights into Uveal Melanoma.
    Clin Genet 2017 Sep 13. Epub 2017 Sep 13.
    Department of Ophthalmology, University of Bonn, Germany.
    Uveal melanoma (UM) is the most frequent primary intraocular tumor in Caucasian adults and is potentially fatal if metastases develop. While several prognostic genetic changes have been identified in UM, epigenetic influences are now getting closer attention. Recent technological advances have allowed to examine the human genome to a greater extent and have improved our understanding of several diseases including malignant tumors. Read More

    Expanding the clinical and molecular spectrum of PRMT7 mutations: three additional patients and review.
    Clin Genet 2017 Sep 13. Epub 2017 Sep 13.
    Laboratory of Medical Genetics, Ospedale Pediatrico Bambino Gesù, Rome, Italy.
    Protein arginine methyltransferase 7 (PRMT7) is a member of a family of enzymes that catalyze the transfer of methyl groups from S-adenosyl-l-methionine to nitrogen atoms on arginine residues. Arginine methylation is involved in multiple biological processes, such as signal transduction, mRNA splicing, transcriptional control, DNA repair, and protein translocation. Currently, seven patients have been described harboring compound heterozygous or homozygous variants in the PRMT7 gene, causing a novel intellectual disability syndrome, known as SBIDDS syndrome (Short Stature, Brachydactyly, Intellectual Developmental Disability, and Seizures). Read More

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