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

Abstract

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 detected were confirmed by Sanger sequencing. The pathogenicity of these mutations was determined by in silico analysis. A maternally inherited deleterious frameshift mutation, c.14439_14454del in exon 66 and a paternally inherited non-sense c.10830G>A stop-gain SNV in exon 55 of USH2A were found as two novel compound heterozygous mutations. Both of these mutations disrupt the C terminal of USH2A protein. As a result, WES revealed two novel compound heterozygous mutations in a Turkish USH2A patient. This approach gave us an opportunity to have an appropriate diagnosis and provide genetic counseling to the family within a reasonable time.

• Authors: Asuman Koparir, Omer Faruk Karatas, Ali Timucin Atayoglu, Bayram Yuksel, Mahmut Samil Sagiroglu, Mehmet Seven, Hakan Ulucan, Adnan Yuksel, Mustafa Ozen
• Journal: Gene (Gene) Vol. 563 Issue 2 Pg. 215-8 (Jun 01 2015) ISSN: 1879-0038 [Electronic] Netherlands
• PMID: 25834954 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright © 2015 Elsevier B.V. All rights reserved.

Topics

• Child
• Genome-Wide Association Study (methods)
• Hearing Loss (genetics)
• Heterozygote
• Humans
• Male
• Mutation
• Retinitis Pigmentosa (genetics)
• Usher Syndromes (genetics)