Exome Sequencing Reveals AGBL5 as Novel Candidate Gene and Additional Variants for Retinitis Pigmentosa in Five Turkish Families


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Kastner S., Thiemann I., Dekomien G., Petrasch-Parwez E., Schreiber S., Akkad D. A., ...More

INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, vol.56, no.13, pp.8045-8053, 2015 (SCI-Expanded) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 56 Issue: 13
  • Publication Date: 2015
  • Doi Number: 10.1167/iovs.15-17473
  • Journal Name: INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Page Numbers: pp.8045-8053
  • Keywords: exome sequencing, AGBL5, CCP5, retinitis pigmentosa, CYTOSOLIC CARBOXYPEPTIDASE, MUTATIONS, CILIA, DATABASE, DISEASE, GENOME, IDENTIFICATION, EXPRESSION, DOMINANT, EYS
  • Ondokuz Mayıs University Affiliated: Yes

Abstract

PURPOSE. Retinitis pigmentosa (RP) is the most common inherited retinal disease with high genetic heterogeneity and variable phenotypes. Characteristic symptoms include night blindness and progressive loss of visual field, leading to blindness. Mutations in > 60 genes have been identified to date as causative for RP, and additional candidate genes are assumed.