A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss
Article first published online: 15 MAR 2011
© 2011 John Wiley & Sons A/S
Volume 81, Issue 3, pages 289–293, March 2012
How to Cite
Yariz, K., Walsh, T., Akay, H., Duman, D., Akkaynak, A., King, M.-C. and Tekin, M. (2012), A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss. Clinical Genetics, 81: 289–293. doi: 10.1111/j.1399-0004.2011.01654.x
- Issue published online: 31 JAN 2012
- Article first published online: 15 MAR 2011
- Accepted manuscript online: 23 FEB 2011 09:12AM EST
- Received 18 November 2010, revised and accepted for publication 21 February 2011
- autosomal recessive;
- genome-wide SNP genotyping;
- hearing loss;
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.