ArticleScientific reports2015
Deep intronic GPR143 mutation in a Japanese family with ocular albinism.
Article in Scientific reports, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 29 citations in OpenAlex.
- Review
- A progeroid syndrome caused by a deep intronic variant in TAPT1 is revealed by RNA/SI-NET sequencing.EMBO molecular medicine · 2023Article
- Identifying gene variants underlying the pathogenesis of diabetic retinopathy based on integrated genomic and transcriptomic analysis of clinical extreme phenotypes.Frontiers in genetics · 2022Article
- Article
- In silico identification of pseudo-exon activation events in personal genome and transcriptome data.RNA biology · 2021Article
- Transposon clusters as substrates for aberrant splice-site activation.RNA biology · 2021Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- RNA sequencing solved the most common but unrecognized NEB pathogenic variant in Japanese nemaline myopathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- The identification of a RNA splice variant in TULP1 in two siblings with early-onset photoreceptor dystrophy.Molecular genetics & genomic medicine · 2019Article
- A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activation.Journal of human genetics · 2019Article
- Identification and Rescue of Splice Defects Caused by Two Neighboring Deep-Intronic ABCA4 Mutations Underlying Stargardt Disease.American journal of human genetics · 2018Article
- Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.JAMA ophthalmology · 2017Article
- Deep intronic mutations and human disease.Human genetics · 2017Review
- Novel human mutation and CRISPR/Cas genome-edited mice reveal the importance of C-terminal domain of MSX1 in tooth and palate development.Scientific reports · 2016Article
- Mutation Detection in Patients with Retinal Dystrophies Using Targeted Next Generation Sequencing.PloS one · 2016Article
- A novel missense mutation of COL5A2 in a patient with Ehlers-Danlos syndrome.Human genome variation · 2016Article
- A novel COL11A1 missense mutation in siblings with non-ocular Stickler syndrome.Human genome variation · 2016Article
- A novel frameshift mutation of CHD7 in a Japanese patient with CHARGE syndrome.Human genome variation · 2016Article
- A novel COL11A1 mutation affecting splicing in a patient with Stickler syndrome.Human genome variation · 2015Article
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Deep intronic mutations are often ignored as possible causes of human disease. Using whole-exome sequencing, we analysed genomic DNAs of a Japanese family with two male siblings affected by ocular albinism and congenital nystagmus. Although mutations or copy number alterations of coding regions were not identified in candidate genes, the novel intronic mutation c.659-131 T > G within GPR143 intron 5 was identified as hemizygous in affected siblings and as heterozygous in the unaffected mother. This mutation was predicted to create a cryptic splice donor site within intron 5 and activate a cryptic acceptor site at 41nt upstream, causing the insertion into the coding sequence of an out-of-frame 41-bp pseudoexon with a premature stop codon in the aberrant transcript, which was confirmed by minigene experiments. This result expands the mutational spectrum of GPR143 and suggests the utility of next-generation sequencing integrated with in silico and experimental analyses for improving the molecular diagnosis of this disease.
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