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Germline BRCA1 and BRCA2 mutations and the risk of bladder or kidney cancer in Poland
IntroductionThe role of the BRCA1 and BRCA2 genes in bladder and renal tumorigenesis is unclear. Our goal was to determine the prevalence of...
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Phenotypic diversity among juvenile polyposis syndrome patients from different ethnic background
AbstractJuvenile polyposis syndrome (JPS), has diverse phenotypes. Aim: To assess mutation rate, clinical features and genotype-phenotype correlation...
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Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwide
Previously we reported the identification of a homozygous COL27A1 (c.2089G>C; p.Gly697Arg) missense variant and proposed it as a founder allele in...
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Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene
BackgroundBiallelic variants in EYS are the major cause of autosomal recessive retinitis pigmentosa (arRP) in certain populations, a clinically and...
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Mutations in GAA Gene in Tunisian Families with Infantile Onset Pompe Disease: Novel Mutation and Structural Modeling Investigations
Pompe disease, a rare, autosomal, recessive, inherited, lysosomal storage disorder, is caused by mutations in the acid α-glucosidase ( GAA ) gene...
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Germline mutations in BRCA1 and BRCA2 among Brazilian women with ovarian cancer treated in the Public Health System
BackgroundGermline mutations in BRCA1 and BRCA2 genes are among the main causes of hereditary ovarian cancer. Identifying these mutations may reduce...
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A novel homozygous MSTO1 mutation in Ashkenazi Jewish siblings with ataxia and myopathy
MSTO1 is a cytoplasmic protein that modulates mitochondrial dynamics by promoting mitochondrial fusion. Mutations in the MSTO1 gene are responsible...
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Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran
Spinal muscular atrophies (SMAs) are a heterogeneous group of neuromuscular diseases characterized by loss of motor neurons, muscle weakness,...
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Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
Machado-Joseph disease (MJD/SCA3) is the most frequent dominant ataxia worldwide. It is caused by a (CAG) n expansion. MJD has two major ancestral...
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DrABC: deep learning accurately predicts germline pathogenic mutation status in breast cancer patients based on phenotype data
BackgroundIdentifying breast cancer patients with DNA repair pathway-related germline pathogenic variants (GPVs) is important for effectively...
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Spinocerebellar ataxia type 31 (SCA31)
Spinocerebellar ataxia type 31 (SCA31) is one of the most common forms of autosomal-dominant cerebellar ataxia in Japan. SCA31 has a strong founder...
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Association of recurrent mutations in BRCA1, BRCA2, RAD51C, PALB2, and CHEK2 with the risk of borderline ovarian tumor
BackgroundThere are several genes associated with ovarian cancer risk. Molecular changes in borderline ovarian tumor (BOT) indicate linkage of this...
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Genetic predisposition to male breast cancer in Poland
BackgroundBreast cancer in men accounts for fewer than 1 % of all breast cancer cases diagnosed in men and women. Genes which predispose to male...
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Novel NCF2 Mutation Causing Chronic Granulomatous Disease
Chronic granulomatous disease (CGD) is a rare primary immunodeficiency disorder caused by defects in the NADPH oxidase complex. Mutations in NCF2 ...
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BRCA1 and BRCA2 mutations in ovarian cancer patients from Belarus: update
BackgroundMutations in BRCA1 and BRCA2 are well-established risk factors for breast and ovarian cancer. In Central-Eastern European counties, the...
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Mutation screening of germline TP53 mutations in high-risk Chinese breast cancer patients
BackgroundGermline TP53 mutations are associated with Li-Fraumeni syndrome, a severe and rare hereditary cancer syndrome. Despite the rarity of...
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The genetic landscape of inherited retinal dystrophies in Arabs
Inherited retinal dystrophies (IRDs) are a major cause of vision loss. Altogether are highly heterogeneous genotypically and phenotypically,...
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Founder Effects of Spinocerebellar Ataxias in the American Continents and the Caribbean
Spinocerebellar ataxias (SCAs) comprise a heterogeneous group of autosomal dominant disorders. The relative frequency of the different SCA subtypes...
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Autosomal Recessive Inheritance and Cystic Fibrosis
Autosomal recessive inheritance is contrasted with autosomal dominant inheritance. Cystic fibrosis is the main example chosen of an autosomal...
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A first description of ataxia with vitamin E deficiency associated with MT-TG gene mutation
Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive cerebellar ataxia disorder that is caused by a mutation in the...
