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A truncating mutation in GPSM2 is associated with recessive non‐syndromic hearing loss
Author(s) -
Yariz KO,
Walsh T,
Akay H,
Duman D,
Akkaynak AC,
King MC,
Tekin M
Publication year - 2012
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.2011.01654.x
Subject(s) - genetics , hearing loss , genetic heterogeneity , phenotype , consanguinity , allele , mutation , biology , medicine , gene , audiology
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.