Whole-exome sequencing revealed two novel mutations in Usher syndrome


Koparir A., Karatas O. F. , ATAYOGLU A. T. , YUKSEL B., SAGIROGLU M. S. , Seven M. , et al.

GENE, cilt.563, ss.215-218, 2015 (SCI İndekslerine Giren Dergi)

  • Cilt numarası: 563 Konu: 2
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.gene.2015.03.060
  • Dergi Adı: GENE
  • Sayfa Sayısı: ss.215-218

Özet

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.