Results 1 to 10 of about 314 (196)
A novel deep intronic variant strongly associates with Alkaptonuria [PDF]
npj Genomic Medicine, 2021 Alkaptonuria is a rare autosomal recessive inherited disorder of tyrosine metabolism, which causes ochronosis, arthropathy, cardiac valvular calcification, and urolithiasis. The epidemiology of alkaptonuria in East Asia is not clear.
Chien-Yi Lai +8 more
doaj +6 more sources
PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing
BMC Genomics, 2023 Background Deep-intronic variants that alter RNA splicing were ineffectively evaluated in the search for the cause of genetic diseases. Determination of such pathogenic variants from a vast number of deep-intronic variants (approximately 1,500,000 ...
Ryo Kurosawa +6 more
doaj +3 more sources
An in‐frame pseudoexon activation caused by a novel deep‐intronic variant in the dysferlin gene
Annals of Clinical and Translational Neurology, 2023 The precise detection and interpretation of pathogenic DYSF variants are sometimes challenging, largely due to rare deep‐intronic splice‐altering variants. Here, we report on the genetic diagnosis of a male patient with dysferlinopathy.
Chengyue Sun +4 more
doaj +3 more sources
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases [PDF]
Annals of Clinical and Translational Neurology, 2020 Objective To identify causative mutations in a patient affected by ataxia and spastic paraplegia. Methods Whole‐exome sequencing (WES) and whole‐genome sequencing (WGS) were performed using patient's DNA sample.
Edgard Verdura +10 more
doaj +5 more sources
Detailed analysis of an enriched deep intronic ABCA4 variant in Irish Stargardt disease patients
Scientific Reports, 2023 Over 15% of probands in a large cohort of more than 1500 inherited retinal degeneration patients present with a clinical diagnosis of Stargardt disease (STGD1), a recessive form of macular dystrophy caused by biallelic variants in the ABCA4 gene ...
Laura Whelan +16 more
doaj +8 more sources
Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum
Annals of Clinical and Translational NeurologyApproximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant.
Xiaosheng Zheng +6 more
doaj +2 more sources
HeliyonMost pathogenic DMD variants are detectable and interpretable by standard genetic testing for dystrophinopthies. However, approximately 1∼3% of dystrophinopthies patients still do not have a detectable DMD variant after standard genetic testing, most ...
Chang Liu +12 more
doaj +3 more sources
A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease
Molecular Genetics & Genomic Medicine, 2020 Background Wilson disease is an autosomal recessive metabolic disorder resulting from accumulation of excess copper especially in the liver and brain.
France Woimant +6 more
doaj +2 more sources
Molecular Genetics & Genomic Medicine, 2023 Background Usher syndrome is a condition characterized by partial or total hearing loss and progressive pigmentary retinopathy. Usher syndrome type 1F is caused by biallelic loss‐of‐function variants in Protocadherin 15 (PCDH15), which encodes the PCDH15
Ziying Yang +4 more
doaj +2 more sources
Frontiers in PediatricsDiagnosing Alport syndrome can be particularly challenging when targeted sequencing methods, such as panel-based next-generation sequencing (NGS), fail to identify pathogenic variants, especially deep intronic mutations.
Hoon Seok Kim +5 more
doaj +3 more sources