Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum [PDF]
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 +4 more sources
Functional analysis of a novel FBN1 deep intronic variant causing Marfan syndrome in a Chinese patient [PDF]
Frontiers in GeneticsMarfan syndrome (MFS MIM#154700), due to pathogenic variants in the FBN1 gene, is an autosomal dominant connective tissue disorder, typically involving the skeletal, cardiovascular and ocular systems.
Qingming Wang +5 more
doaj +6 more sources
A novel deep intronic variant introduce dystrophin pseudoexon in Becker muscular dystrophy: A case report [PDF]
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 +4 more sources
Case report: Compound heterozygous nonsense PCDH15 variant and a novel deep‐intronic variant in a Chinese child with profound hearing loss [PDF]
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 +3 more sources
A novel deep intronic variant in ATP7B in five unrelated families affected by Wilson disease [PDF]
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 +3 more sources
A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing [PDF]
Molecular Genetics and Metabolism Reports, 2021 Pathogenic variants in non-coding regions of genes encoding enzymes or transporters of the urea cycle can lead to urea cycle disorders (UCDs). However, not all commercially available testing platforms interrogate these regions. Here, we used a gene panel
Runjun D. Kumar +6 more
doaj +4 more sources
An in‐frame pseudoexon activation caused by a novel deep‐intronic variant in the dysferlin gene [PDF]
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 +2 more sources
FOXP3 deep intronic variant underlying IPEXPathogenic FOXP3 deep intronic variant [PDF]
Journal of Human ImmunityWe report a deep intronic FOXP3 pathogenic variant that was investigated by RNA sequencing in heterozygous female carriers.
Pierre Gaufryau +14 more
doaj +2 more sources
Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease [PDF]
Frontiers in Genetics, 2022 Background: Menkes disease (MD) is a rare X-linked connective tissue disorder of copper metabolism caused by pathogenic variant(s) in ATP7A gene. The aim of the present study is to determine the clinical characteristics and molecular basis of one patient
Xiufang Zhi +18 more
doaj +2 more sources
Phenotypic study of humanized mice carrying the PAH deep intronic variant c.1199+502A>T [PDF]
Orphanet Journal of Rare DiseasesBackground The c.1199 + 502 A > T variant of the phenylalanine hydroxylase (PAH) gene, which is the most frequently reported deep intronic variant involved in phenylketonuria (PKU), is mainly observed in patients with classical or mild PKU. Prior to this
Chuan Zhang +8 more
doaj +2 more sources