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A deleterious mutation in the LOXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews

Authors

  • S. Edvardson,

    Corresponding author
    1. Pediatric Neurology Unit, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    • Hadassah Medical Center, POB 12000, Jerusalem 91220, Israel.
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  • C. Jalas,

    1. Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, New York
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  • A. Shaag,

    1. Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    2. The Department of Genetic and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
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  • S. Zenvirt,

    1. Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    2. The Department of Genetic and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
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  • C. Landau,

    1. Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, New York
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  • I. Lerer,

    1. Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    2. The Department of Genetic and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
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  • O. Elpeleg

    1. Monique and Jacques Roboh Department of Genetic Research, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
    2. The Department of Genetic and Metabolic Diseases, Hadassah, Hebrew University Medical Center, Jerusalem, Israel
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  • How to Cite this Article: Edvardson S, Jalas C, Shaag A, Zenvirt S, Landau C, Lerer I, Elpeleg O. 2011. A deleterious mutation in the OXHD1 gene causes autosomal recessive hearing loss in Ashkenazi Jews. Am J Med Genet Part A 155:1170–1172.

Abstract

Autosomal recessive nonsyndromic sensorineural hearing loss (ARNSHL) in Ashkenazi Jews, is mainly caused by mutations in the GJB2 and GJB6 genes. Here we describe a novel homozygous mutation of the LOXHD1 gene resulting in a premature stop codon (R1572X) in nine patients of Ashkenazi Jewish origin who had severe-profound congenital non-progressive ARNSHL and benefited from cochlear implants. Upon screening for the mutation among 719 anonymous Ashkenazi-Jews we detected four carriers, indicating a carrier rate of 1:180 Ashkenazi Jews. This is the second reported mutation in the LOXHD1 gene, and its homozygous presence in two of 39 Ashkenazi Jewish families with congenital ARNSHL suggest that it could account for some 5% of the familial cases in this community. © 2011 Wiley-Liss, Inc.

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