Published January 1, 2015
| Version v1
Journal article
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Whole-exome sequencing revealed two novel mutations in Usher syndrome
Creators
- 1. Istanbul Univ, Cerrahpasa Med Sch, Dept Med Genet, Istanbul, Turkey
- 2. Amer Hosp, Dept Family Med, Istanbul, Turkey
- 3. TUBITAK Marmara Res Ctr, Genet Engn & Biotechnol Inst, Kocaeli, Turkey
- 4. Adv Genom & Bioinformat Res Ctr IGBAM, Tubitak, Kocaeli, Turkey
- 5. Biruni Univ, TR-34010 Istanbul, Turkey
Description
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.
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