USH1H, a novel locus for type I Usher syndrome, maps to chromosome 15q22-23

Authors

  • ZM Ahmed,

    1. Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
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  • S Riazuddin,

    1. Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
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  • SN Khan,

    1. National Center of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
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  • PL Friedman,

    1. Internal Medicine Consult Service, Hatfield Clinical Research Center, National Institutes of Health, Bethesda, MD, USA
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  • S Riazuddin,

    1. National Center of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan
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  • TB Friedman

    Corresponding author
    1. Section on Human Genetics, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, MD, USA
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Thomas B. Friedman, Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 5 Research Court, Rm 2A-19, Rockville, MD 20850, USA.
Tel.: +301 496 7882;
fax: +301 402 7580;
e-mail: friedman@nidcd.nih.gov

Abstract

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.

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