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USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22‐23
Author(s) -
Ahmed ZM,
Riazuddin S,
Khan SN,
Friedman PL,
Riazuddin S,
Friedman TB
Publication year - 2009
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2008.01038.x
Subject(s) - locus (genetics) , genetics , usher syndrome , retinitis pigmentosa , genetic linkage , allele , biology , consanguinity , hearing loss , genetic heterogeneity , medicine , audiology , gene , phenotype
Usher syndrome (USH) is a hereditary disorder associated with sensorineural hearing impairment, progressive loss of vision attributable to retinitis pigmentosa (RP) and variable vestibular function. Three clinical types have been described with type I (USH1) being the most severe. To date, six USH1 loci have been reported. We ascertained two large Pakistani consanguineous families segregating profound hearing loss, vestibular dysfunction, and RP, the defining features of USH1. In these families, we excluded linkage of USH to the 11 known USH loci and subsequently performed a genome‐wide linkage screen. We found a novel USH1 locus designated USH1H that mapped to chromosome 15q22‐23 in a 4.92‐cM interval. This locus overlaps the non‐syndromic deafness locus DFNB48 raising the possibility that the two disorders may be caused by allelic mutations.