Novel homozygous truncating variants in ZMYND15 causing severe oligozoospermia and their implications for male infertility
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24138
Abstract: Sequence variants of ZMYND15 cause azoospermia in humans, but they have not yet been reported in infertile men with severe oligozoospermia (SO). We performed whole‐exome and Sanger sequencing to identify suspected causative variants in 414… read more here.
Keywords: novel homozygous; variants zmynd15; male infertility; infertility ... See more keywords
Novel homozygous nonsynonymous variant of CNNM4 gene in a Chinese family with Jalili syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1860
Abstract: Jalili syndrome (JS) is a rare autosomal‐recessive inherited disorder characterized by cone‐rod dystrophy and amelogenesis imperfecta. It is often misdiagnosed in clinical practice due to its heterogeneity and rarity. read more here.
Keywords: homozygous nonsynonymous; nonsynonymous variant; jalili syndrome; jalili ... See more keywords
Novel homozygous pathogenic mitochondrial DNAJC19 variant in a patient with dilated cardiomyopathy and global developmental delay
Sign Up to like & getrecommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"
DOI: 10.1002/mgg3.1969
Abstract: Dilated cardiomyopathy with ataxia syndrome (DCMA) or 3‐methylglutaconic aciduria type V is a rare global autosomal recessive mitochondrial syndrome that is clinically and genetically heterogeneous. It is characterized by early‐onset dilated cardiomyopathy and increased urinary… read more here.
Keywords: pathogenic mitochondrial; mitochondrial dnajc19; novel homozygous; dnajc19 ... See more keywords
Autosomal Recessive Osteogenesis Imperfecta Caused by a Novel Homozygous COL1A2 Mutation
Sign Up to like & getrecommendations! Published in 2018 at "Calcified Tissue International"
DOI: 10.1007/s00223-018-0414-4
Abstract: Osteogenesis imperfecta (OI) is a skeletal dysplasia characterized by brittle bones and extraskeletal manifestations. The disease phenotype varies greatly. Most commonly, OI arises from monoallelic mutations in one of the two genes encoding type I… read more here.
Keywords: novel homozygous; col1a2; caused novel; osteogenesis imperfecta ... See more keywords
Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2)
Sign Up to like & getrecommendations! Published in 2018 at "Metabolic Brain Disease"
DOI: 10.1007/s11011-018-0200-z
Abstract: The UNC80 gene encodes for a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. In this study, we report on a novel homozygous mutation in UNC80… read more here.
Keywords: novel homozygous; hypotonia psychomotor; infantile hypotonia; characteristic facies ... See more keywords
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Neurology and Neurosurgery"
DOI: 10.1016/j.clineuro.2018.02.042
Abstract: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or… read more here.
Keywords: novel homozygous; homozygous gba2; mutation; spastic paraplegia ... See more keywords
Exome sequencing found a novel homozygous deletion in ADCK3 gene involved in autosomal recessive spinocerebellar ataxia.
Sign Up to like & getrecommendations! Published in 2019 at "Gene"
DOI: 10.1016/j.gene.2019.05.016
Abstract: Autosomal recessive cerebellar ataxia is heterogeneous inherited neurodegenerative disorders with more than 70 involved genes. The development of next generation sequencing opens a new window in rapid diagnosis of such heterogeneous condition in medical genetics… read more here.
Keywords: novel homozygous; sequencing found; exome sequencing; found novel ... See more keywords
GNE myopathy in a Chinese male with a novel homozygous mutation
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Neuroscience"
DOI: 10.1016/j.jocn.2016.12.041
Abstract: GNE myopathy is a rare autosomal recessive inheritance disease due to the mutation of GNE gene. To date, 107 mutations have been reported in different populations worldwide in GNE gene(HGMD Professional 2016.2). Here we report… read more here.
Keywords: novel homozygous; mutation gne; gne myopathy; gne gene ... See more keywords
A novel homozygous missense mutation in BHLHA9 causes mesoaxial synostotic syndactyly with phalangeal reduction in a Pakistani family
Sign Up to like & getrecommendations! Published in 2017 at "Human Genome Variation"
DOI: 10.1038/hgv.2017.54
Abstract: Mesoaxial synostotic syndactyly with phalangeal reduction (MSSD) is a rare non-syndromic limb malformation with autosomal recessive inheritance. To date, only a few affected families with MSSD who had BHLHA9 mutations have been reported. The present… read more here.
Keywords: mesoaxial synostotic; syndactyly phalangeal; novel homozygous; pakistani family ... See more keywords
An expansion of phenotype: novel homozygous variant in the MED17 identified in patients with progressive microcephaly and global developmental delay
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Neurogenetics"
DOI: 10.1080/01677063.2022.2149748
Abstract: Abstract Global developmental delay (GDD) is a lifelong disability that affects 1–3% of the population around the globe. It is phenotypically variable and highly heterogeneous in terms of the underlying genetics. Patients with GDD are… read more here.
Keywords: novel homozygous; developmental delay; variant; progressive microcephaly ... See more keywords
A novel homozygous disruptive PRF1 variant (K285Sfs*4) causes very early-onset of familial hemophagocytic lymphohystiocytosis type 2
Sign Up to like & getrecommendations! Published in 2020 at "Pediatric Hematology and Oncology"
DOI: 10.1080/08880018.2020.1793849
Abstract: F. Saettini, I. Castelli, M. Provenzi, G. Fazio, M. Quadri, G. Cazzaniga, S. Sala, F. Dell’Acqua, E. Sieni, M. L. Coniglio, L. Pezzoli, M. Iascone, F. Vendemini, A. C. Balduzzi, A. Biondi, C. Rizzari ,… read more here.
Keywords: novel homozygous; hematology; monza italy; homozygous disruptive ... See more keywords