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Characterization of the pathogenic α-Synuclein Variant V15A in Parkinson´s disease
Despite being a major component of Lewy bodies and Lewy neurites, pathogenic variants in the gene encoding alpha-Synuclein (α-Syn) are rare. To date,...
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Hypomorphic pathogenic variant in SFTPB leads to adult pulmonary fibrosis
Biallelic pathogenic variants in the surfactant protein (SP)-B gene ( SFTPB ) have been associated with fatal forms of interstitial lung diseases (ILD)...
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Novel likely pathogenic variant in the EYA1 gene causing Branchio oto renal syndrome and the exploration of pathogenic mechanisms
ObjectiveBranchio-oto-renal syndrome (BOR, OMIM#113,650) is a rare autosomal dominant disorder that presents with a variety of symptoms, including...
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MAGPIE: accurate pathogenic prediction for multiple variant types using machine learning approach
Identifying pathogenic variants from the vast majority of nucleotide variation remains a challenge. We present a method named Multimodal Annotation...
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Wilms tumour resulting from paternal transmission of a TRIM28 pathogenic variant—A first report
Wilms tumour (nephroblastoma) is a renal embryonal tumour that is frequently caused by constitutional variants in a small range of cancer...
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GM2 Gangliosidosis: Whole-Exome Sequencing Reveals Novel Homozygous Pathogenic Variant within the HEXA Gene in Iranian Family
AbstractGM2 gangliosidosis is a hereditary lysosomal storage disorder resulting from mutations in the Hexosaminidase A (HEXA) gene, which leads to a...
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Novel pathogenic variant in MED12 causing non-syndromic dilated cardiomyopathy
BackgroundDilated cardiomyopathy (DCM) is a major cause of sudden cardiac death and heart failure. Up to 50% of all DCM cases have a genetic...
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A de novo germline pathogenic BRCA1 variant identified following an osteosarcoma pangenomic molecular analysis
De novo germline pathogenic variants (gPV) of the BReast CAncer 1 ( BRCA1 ) gene are very rare. Only a few have been described up to date, usually in...
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Genome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonization
Familial adenomatous polyposis (FAP) is a hereditary cancer syndrome that occurs as a result of germline mutations in the APC gene. Despite a clear...
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A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome
BackgroundTreacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder.
MethodsTo investigate the genetic features of a...
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Clinical case study meets population cohort: identification of a BRCA1 pathogenic founder variant in Orcadians
We multiply ascertained the BRCA1 pathogenic missense variant c.5207T > C; p.Val1736Ala (V1736A) in clinical investigation of breast and ovarian...
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Detection of a novel pathogenic variant in KCNH2 associated with long QT syndrome 2 using whole exome sequencing
BackgroundLong QT syndrome (LQTS) is a cardiac channelopathy characterized by impaired myocardial repolarization that predisposes to life-threatening...
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Identification of a pathogenic SMCHD1 variant in a Chinese patient with bosma arhinia microphthalmia syndrome: a case report
BackgroundBosma arhinia microphthalmia syndrome (BAMS; MIM603457) is a rare genetic disorder, predominantly autosomal dominant. It is a multi-system...
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Bialelic Pathogenic (c.830G>A(p.R277Q)) Variant Disrupting the GNE Gene Function and Causes Nonaka myopathy Phenotype
Nonaka myopathy (MIM 605820) is caused by homozygous pathogenic variants in the GNE gene. It is a recessively inherited early adult-onset myopathy...
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Pathogenic REST variant causing Jones syndrome and a review of the literature
Jones syndrome is a rare dominantly inherited syndrome characterized by gingival fibromatosis and progressive sensorineural hearing loss becoming...
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A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay
Mitochondrial diseases are a group of genetic diseases caused by mutations in mitochondrial DNA and nuclear DNA. However, the genetic spectrum of...
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Pathogenic sequence variant and microdeletion affecting HMGA2 in Silver–Russell syndrome: case reports and literature review
Silver–Russell syndrome (SRS) is a representative imprinting disorder characterized by pre- and postnatal growth failure. We encountered two Japanese...
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Prenatal diagnosis of dent disease type I with a nonsense pathogenic variant in CLCN5: a case study
IntroductionDent disease type I is a rare X-linked recessive renal tubular disease resulting from pathogenic variants in the CLCN5 gene. Due to the...
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Late-onset Fabry disease due to a new (p.Pro380Leu) pathogenic variant of GLA Gene
Fabry disease is a rare X-linked lysosomal storage disorder due to pathogenic variants of the galactosidase alpha (GLA) gene, leading to a deficiency...
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Risk-reducing mastectomy and breast cancer mortality in women with a BRCA1 or BRCA2 pathogenic variant: an international analysis
BackgroundRisk-reducing mastectomy (RRM) is offered to women with a BRCA1 or BRCA2 pathogenic variant, however, there are limited data on the impact...
