ArticleMolecular vision2008
Identification of candidate regions for a novel Usher syndrome type II locus.
Article in Molecular vision, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 11 citations in OpenAlex.
- Genetics and genomic medicine in Tunisia.Molecular genetics & genomic medicine · 2018Article
- Current understanding of usher syndrome type II.Frontiers in bioscience (Landmark edition) · 2012Article
- Crag is a GEF for Rab11 required for rhodopsin trafficking and maintenance of adult photoreceptor cells.PLoS biology · 2012Article
- Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.Orphanet journal of rare diseases · 2011Article
- Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa.Journal of medical genetics · 2010Article
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Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeChronic diseases affecting the inner ear and the retina cause severe impairments to our communication systems. In more than half of the cases, Usher syndrome (USH) is the origin of these double defects. Patients with USH type II (USH2) have retinitis pigmentosa (RP) that develops during puberty, moderate to severe hearing impairment with downsloping pure-tone audiogram, and normal vestibular function. Four loci and three genes are known for USH2. In this study, we proposed to localize the gene responsible for USH2 in a consanguineous family of Tunisian origin.
methodsAffected members underwent detailed ocular and audiologic characterization. One Tunisian family with USH2 and 45 healthy controls unrelated to the family were recruited. Two affected and six unaffected family members attended our study. DNA samples of eight family members were genotyped with polymorphic markers. Two-point and multipoint LOD scores were calculated using Genehunter software v2.1. Sequencing was used to investigate candidate genes.
resultsHaplotype analysis showed no significant linkage to any known USH gene or locus. A genome-wide screen, using microsatellite markers, was performed, allowing the identification of three homozygous regions in chromosomes 2, 4, and 15. We further confirmed and refined these three regions using microsatellite and single-nucleotide polymorphisms. With recessive mode of inheritance, the highest multipoint LOD score of 1.765 was identified for the candidate regions on chromosomes 4 and 15. The chromosome 15 locus is large (55 Mb), underscoring the limited number of meioses in the consanguineous pedigree. Moreover, the linked, homozygous chromosome 15q alleles, unlike those of the chromosome 2 and 4 loci, are infrequent in the local population. Thus, the data strongly suggest that the novel locus for USH2 is likely to reside on 15q.
conclusionsOur data provide a basis for the localization and the identification of a novel gene implicated in USH2, most likely localized on 15q.
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Identifiers
18806881PMC2538493W1718118757What OpenQuestion holds
Registered trials
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