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

K. O. Yariz, T. Walsh, H. Akay, D. Duman, A. C. Akkaynak, M. C. King, M. Tekin

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

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.

Original languageEnglish (US)
Pages (from-to)289-293
Number of pages5
JournalClinical Genetics
Volume81
Issue number3
DOIs
StatePublished - Mar 1 2012

Keywords

  • Autosomal recessive
  • Deafness
  • Genome-wide SNP genotyping
  • GPSM2
  • Hearing loss
  • Homozygosity

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics

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