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., ...Daha Fazla

CLINICAL GENETICS, cilt.81, sa.3, ss.289-293, 2012 (SCI-Expanded, Scopus)

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 81 Sayı: 3
  • Basım Tarihi: 2012
  • Doi Numarası: 10.1111/j.1399-0004.2011.01654.x
  • Dergi Adı: CLINICAL GENETICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.289-293
  • Anahtar Kelimeler: autosomal recessive, deafness, genome-wide SNP genotyping, GPSM2, hearing loss, homozygosity, BINDING, MOTIF, LGN
  • Açık Arşiv Koleksiyonu: AVESİS Açık Erişim Koleksiyonu
  • Ankara Üniversitesi Adresli: Evet

Özet

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.