• autosomal recessive;
  • deafness;
  • genome-wide SNP genotyping;
  • GPSM2;
  • hearing loss;
  • homozygosity

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.