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Riluzole partially restores RNA polymerase III complex assembly in cells expressing the leukodystrophy-causative variant POLR3B R103H
The mechanism of assembly of RNA polymerase III (Pol III), the 17-subunit enzyme that synthesizes tRNAs, 5 S rRNA, and other small-nuclear (sn) RNAs...
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I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for develo** dilated cardiomyopathy
AbstractRBM20 is one of the genes predisposing to dilated cardiomyopathy (DCM). Variants in the RS domain have been reported in many DCM patients,...
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Characterization of a novel HDAC2 pathogenetic variant: a missing puzzle piece for chromatinopathies
Histone deacetylases (HDACs) are enzymes pivotal for histone modification (i.e. acetylation marks removal), chromatin accessibility and gene...
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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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Phenotypic similarity-based approach for variant prioritization for unsolved rare disease: a preliminary methodological report
Rare diseases (RD) have a prevalence of not more than 1/2000 persons in the European population, and are characterised by the difficulty experienced...
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A novel PAX6 variant as the cause of aniridia in a Chinese patient with SRRRD
BackgroundThe genotype characteristics and their associated clinical phenotypes in patients with aniridia were analyzed to explore pathogenic...
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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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Pathogenic variant of RBM20 in a multiplex family with hypertrophic cardiomyopathy
RBM20 is a disease-causing gene associated with dilated cardiomyopathy (DCM). The proband presented with the dilated phase of hypertrophic...
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Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia
BackgroundParthenogenetic mosaicism is an extremely rare condition identified only in five subjects to date. The previous studies indicate that this...
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MmisAT and MmisP: an efficient and accurate suite of variant analysis toolkit for primary mitochondrial diseases
Recent advances in next-generation sequencing (NGS) technology have greatly accelerated the need for efficient annotation to accurately interpret...
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CRYAB stop-loss variant causes rare syndromic dilated cardiomyopathy with congenital cataract: expanding the phenotypic and mutational spectrum of alpha-B crystallinopathy
Missense mutations in the alpha-B crystallin gene ( CRYAB ) have been reported in desmin-related myopathies with or without cardiomyopathy and have...
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A recurrent synonymous L1CAM variant in a fetus with hydrocephalus
We report the case of a hydrocephalic fetus in which clinical exome sequencing revealed a recurrent synonymous variant of unknown significance,...
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A heterozygous splicing variant IVS9-7A > T in intron 9 of the MAPT gene in a patient with right-temporal variant frontotemporal dementia with atypical 4 repeat tauopathy
Right temporal variant frontotemporal dementia, also called right-predominant semantic dementia, often has an unclear position within the framework...
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The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease
Although the molecular mechanisms underlying congenital heart disease (CHD) remain poorly understood, recent advances in genetic analysis have...
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Rare mosaic variant of GJA1 in a patient with a neurodevelopmental disorder
GJA1 is the causative gene for oculodentodigital dysplasia (ODDD). A novel de novo GJA1 variant, NM 000165:c263C > T [p.P88L], was identified in a...
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Novel frameshift variant of WNT10A in a Japanese patient with hypodontia
Congenital tooth agenesis is caused by the impairment of crucial genes related to tooth development, such as Wnt signaling pathway genes. Here, we...
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First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease
Lysosomal acid lipase (LAL) is a necessary enzyme for the hydrolysis of both triglycerides (TGs) and cholesteryl esters (CEs) in the lysosome....
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A 39 kb structural variant causing Lynch Syndrome detected by optical genome map** and nanopore sequencing
Lynch Syndrome (LS) is a hereditary cancer syndrome caused by pathogenic germline variants in one of the four mismatch repair (MMR) genes MLH1 , MSH2 , MSH6...
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A deletion variant in LMX1B causing nail–patella syndrome in Japanese twins
Nail–patella syndrome (NPS) is a hereditary disease caused by pathogenic variants in LMX1B and characterized by nail, limb, and renal symptoms. This...
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Clinical and functional characterization of a long survivor congenital titinopathy patient with a novel metatranscript-only titin variant
Congenital titinopathies are an emerging group of a potentially severe form of congenital myopathies caused by biallelic mutations in titin, encoding...
