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Case Reports
. 2012 Mar;81(3):289-93.
doi: 10.1111/j.1399-0004.2011.01654.x. Epub 2011 Mar 15.

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

K O Yariz  1 , T Walsh, H Akay, D Duman, A C Akkaynak, M-C King, M Tekin
Affiliations
Case Reports

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

K O Yariz et al. Clin Genet. 2012 Mar.

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.

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Conflict of interest statement

Conflict of interest

The authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1. Homozygosity mapping of sensorineural hearing loss (SNHL) in a consanguineous Turkish family
A. Haplotypes at chromosome 1p13.1 co-segregate with recessive SNHL in the family. B. Audiograms revealing severe to profound hearing loss in the affected children and normal hearing in their parents.
Figure 2
Figure 2. GPSM2 mutation
A. Electropherograms of reverse sequence of GPSM2 c.1684C>T (p.Q562X) in an affected child (top), unaffected parent (middle), and unrelated control (bottom). B. GPSM2 has seven tetratricopeptide repeats (TPR) at the amino-terminus (blue boxes) and four Gαi/o-Loco (GoLoco) repeats at the carboxy-terminus (red circles). The previously reported mutation causes a truncation in a TPR whereas p.Q562X causes a truncation in the second GoLoco motif.
See this image and copyright information in PMC

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