ArticleAmerican journal of human genetics2010
Next-generation sequencing of a 40 Mb linkage interval reveals TSPAN12 mutations in patients with familial exudative vitreoretinopathy.
Article in American journal of human genetics, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 105 papers.
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Who cites it
105 citing papers in PubMed, 231 citations in OpenAlex.
- Article
- Characterization of a novel heterozygous frameshift variant in NDP gene that causes familial exudative vitreoretinopathy in female patients.Molecular genetics and genomics : MGG · 2024Article
- Mutations in TSPAN12 gene causing familial exudative vitreoretinopathy.Human genomics · 2024Article
- Genetic detection of two novel LRP5 pathogenic variants in patients with familial exudative vitreoretinopathy.BMC ophthalmology · 2023Article
- Review
- An SNX31 variant underlies dominant familial exudative vitreoretinopathy-like pathogenesis.JCI insight · 2023Article
- Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With CTNNB1 Mutations.Investigative ophthalmology & visual science · 2023Article
- Identifying novel candidate compounds for therapeutic strategies in retinopathy of prematurity via computational drug-gene association analysis.Frontiers in pediatrics · 2023Article
- Clinical characteristics and mutation spectrum in 33 Chinese families with familial exudative vitreoretinopathy.Annals of medicine · 2022Article
- Mutation spectrum in a cohort with familial exudative vitreoretinopathy.Molecular genetics & genomic medicine · 2022Article
- CTNND1 variants cause familial exudative vitreoretinopathy through the Wnt/cadherin axis.JCI insight · 2022Article
- Familial exudative vitreoretinopathy in a 4 generations family of South-East Asian Descendent with FZD4 mutation (c.1501_1502del).International journal of retina and vitreous · 2022Article
- FZD4 in a Large Chinese Population With Familial Exudative Vitreoretinopathy: Molecular Characteristics and Clinical Manifestations.Investigative ophthalmology & visual science · 2022Article
- Decrease ofFrontiers in medicine · 2022Article
- Ocular manifestations of Chinese patients with copy number variants in theMolecular vision · 2022Article
- Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5.Nature communications · 2021Article
- Pathogenic variants and associated phenotypic spectrum of TSPAN12 based on data from a large cohort.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2021Article
- Whole-Gene Deletions ofGenes · 2021Article
- Catenin α 1 mutations cause familial exudative vitreoretinopathy by overactivating Norrin/β-catenin signaling.The Journal of clinical investigation · 2021Article
- Novel Norrie disease gene mutations in Chinese patients with familial exudative vitreoretinopathy.BMC ophthalmology · 2021Article
45 more citing papers are in PubMed but not listed here.
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Authors and funding
18 authors at 7 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial exudative vitreoretinopathy (FEVR) is a genetically heterogeneous retinal disorder characterized by abnormal vascularisation of the peripheral retina, often accompanied by retinal detachment. To date, mutations in three genes (FZD4, LRP5, and NDP) have been shown to be causative for FEVR. In two large Dutch pedigrees segregating autosomal-dominant FEVR, genome-wide SNP analysis identified an FEVR locus of approximately 40 Mb on chromosome 7. Microsatellite marker analysis suggested similar at risk haplotypes in patients of both families. To identify the causative gene, we applied next-generation sequencing in the proband of one of the families, by analyzing all exons and intron-exon boundaries of 338 genes, in addition to microRNAs, noncoding RNAs, and other highly conserved genomic regions in the 40 Mb linkage interval. After detailed bioinformatic analysis of the sequence data, prioritization of all detected sequence variants led to three candidates to be considered as the causative genetic defect in this family. One of these variants was an alanine-to-proline substitution in the transmembrane 4 superfamily member 12 protein, encoded by TSPAN12. This protein has very recently been implicated in regulating the development of retinal vasculature, together with the proteins encoded by FZD4, LRP5, and NDP. Sequence analysis of TSPAN12 revealed two mutations segregating in five of 11 FEVR families, indicating that mutations in TSPAN12 are a relatively frequent cause of FEVR. Furthermore, we demonstrate the power of targeted next-generation sequencing technology to identify disease genes in linkage intervals.
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