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

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.

SUBMITTER: Yariz KO 

PROVIDER: S-EPMC3657750 | biostudies-literature | 2012 Mar

REPOSITORIES: biostudies-literature

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

Yariz K O KO   Walsh T T   Akay H H   Duman D D   Akkaynak A C AC   King M-C MC   Tekin M M  

Clinical genetics 20110315 3

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  ...[more]

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