A novel RP1 mutation demonstrated in a Turkish family with autosomal recessive retinitis pigmentosa

ERGÜN M. A., Citirik M., Bilgili G., Ergun S. G., Polat G.

GENE REPORTS, vol.11, pp.1-5, 2018 (ESCI) identifier identifier

  • Publication Type: Article / Article
  • Volume: 11
  • Publication Date: 2018
  • Doi Number: 10.1016/j.genrep.2018.01.003
  • Journal Name: GENE REPORTS
  • Journal Indexes: Emerging Sources Citation Index (ESCI), Scopus
  • Page Numbers: pp.1-5
  • Gazi University Affiliated: Yes

Abstract

Retinitis pigmentosa (RP) refers to a heterogeneous group of inherited ocular diseases that result in a progressive retinal degeneration. Due to the genetic heterogeneity of RP, 76 different forms have been described till now. Also, autosomal recessive, dominant and X-linked inheritance has also been reported. A major indication for use of whole exome sequencing (WES) in the molecular diagnosis of patients depends on the genetic heterogeneity.