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

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

CLINICAL GENETICS, vol.81, no.3, pp.289-293, 2012 (SCI-Expanded, Scopus)

  • Publication Type: Article / Article
  • Volume: 81 Issue: 3
  • Publication Date: 2012
  • Doi Number: 10.1111/j.1399-0004.2011.01654.x
  • Journal Name: CLINICAL GENETICS
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.289-293
  • Keywords: autosomal recessive, deafness, genome-wide SNP genotyping, GPSM2, hearing loss, homozygosity, BINDING, MOTIF, LGN
  • Open Archive Collection: AVESIS Open Access Collection
  • Ankara University Affiliated: Yes

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.