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

Authors


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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