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Whole-exome sequencing revealed two novel mutations in Usher syndrome.

Gene - 1 Jun 2015

Koparir Asuman, Karatas Omer Faruk, Atayoglu Ali Timucin, Yuksel Bayram, Sagiroglu Mahmut Samil, Seven Mehmet, Ulucan Hakan, Yuksel Adnan, Ozen Mustafa

Abstract excerpt

Usher syndrome is a clinically and genetically heterogeneous autosomal recessive inherited disorder accompanied by hearing loss and retinitis pigmentosa (RP). Since the associated genes are various and quite large, we utilized whole-exome sequencing (WES) as a diagnostic tool to identify the molecular basis of Usher syndrome. DNA from a 12-year-old male diagnosed with Usher syndrome was analyzed by WES. Mutations...

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PMID: 25834954
DOI: 10.1016/j.gene.2015.03.060

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