A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss

Authors

  • KO Yariz,

    1. Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL USA
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  • T Walsh,

    1. Department of Medicine (Medical Genetics)
    2. Department of Genome Sciences, University of Washington, Seattle, WA, USA
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  • H Akay,

    1. Veni Vidi Hospital, Diyarbakir, Turkey
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  • D Duman,

    1. Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey
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  • AC Akkaynak,

    1. Veni Vidi Hospital, Diyarbakir, Turkey
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  • M-C King,

    1. Department of Medicine (Medical Genetics)
    2. Department of Genome Sciences, University of Washington, Seattle, WA, USA
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  • M Tekin

    Corresponding author
    1. Dr. John T. Macdonald Foundation Department of Human Genetics and John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL USA
    2. Division of Pediatric Genetics, Ankara University School of Medicine, Ankara, Turkey
      Dr Mustafa Tekin, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL 33136, USA.
      Tel.: 305 243 2381;
      fax: 305 243 2703;
      e-mail: mtekin@med.miami.edu
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Dr Mustafa Tekin, 1501 NW 10th Avenue, BRB-610 (M-860), Miami, FL 33136, USA.
Tel.: 305 243 2381;
fax: 305 243 2703;
e-mail: mtekin@med.miami.edu

Abstract

Yariz KO, Walsh T, Akay H, Duman D, Akkaynak AC, King M-C, Tekin M. A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss.

Hereditary deafness is a genetically heterogeneous phenotype for which more than 100 genomic loci have been identified thus far. By analysis of a consanguineous Palestinian family, GPSM2 was recently discovered to be the cause of autosomal recessive non-syndromic hearing loss DFNB82. Here, we report a second truncating mutation, GPSM2 p.Q562X, identified via autozygosity mapping in a consanguineous Turkish family. This report provides evidence for allelic heterogeneity of GPSM2 and confirms its causative role for non-syndromic deafness.

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