Whole-exome sequencing revealed two novel mutations in Usher syndrome

Koparir A., Karatas O. F., ATAYOĞLU A. T., Yuksel B., Sagiroglu M. S., SEVEN M., ...More

Gene, vol.563, no.2, pp.215-218, 2015 (SCI-Expanded) identifier identifier

  • Publication Type: Article / Article
  • Volume: 563 Issue: 2
  • Publication Date: 2015
  • Doi Number: 10.1016/j.gene.2015.03.060
  • Journal Name: Gene
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.215-218
  • Keywords: USH2A, Usher syndrome, Whole exome sequencing
  • Istanbul Medipol University Affiliated: Yes


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.