Article
Biallelic nonsense mutations in the otogelin-like gene (OTOGL) in a child affected by mild to moderate hearing impairment.
Gene - 25 Sept 2013
Bonnet C, Louha M, Loundon N, Michalski N, Verpy E, Smagghe L, Hardelin J-P, Rouillon I, Jonard L, Couderc R, Gherbi S, Garabedian E N, Denoyelle F, Petit C, Marlin S
Abstract excerpt
Hearing impairment is characterized by great genetic heterogeneity. We report the identification, by whole exome sequencing, of two different nonsense mutations (c.1558C>T; p.Gln520 and c.2773C>T; p.Arg925) in the otogelin-like gene (OTOGL), in a child affected by mild to moderate isolated deafness. Parental genotypes allowed us to conclude that these mutations are present in the compound heterozygous state in...
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