The first reported case of a deletion of the entire RPGR gene in a family with X-linked retinitis pigmentosa. (3rd September 2022)

• Record Type: Journal Article
• Authors: Mihailovic, Nataša; Schimpf-Linzenbold, Simone; Sattler, Inga; Eter, Nicole; Heiduschka, Peter
• Is Part Of: Ophthalmic genetics. Volume 43:Number 5(2022)
• Page Start: 679
• Page End: 684
• Publication Date: 2022-09-03
• Subjects: RP -- AAV -- phenotype -- codon-optimization -- inherited retinal diseases; Eye -- Diseases -- Genetic aspects -- Periodicals; Eye Diseases -- genetics -- Periodicals; Eye Diseases -- in infancy & childhood -- Periodicals; 617.7
• DOI: 10.1080/13816810.2022.2083181
• Languages: English
• ISSNs: 1381-6810

Abstract

ABSTRACT: Clinical phenotypes of a patient with a deletion of the entire RPGR gene have not been described in the literature yet. We hereby report a new mutation in a family of X-linked retinitis pigmentosa (×lRP), showing the deletion of the entire RPGR gene. Gene therapy for inherited retinal diseases holds great promise; however, so far there has been no approved treatment of RPGR -mediated retinitis pigmentosa. The presented evidence of genotype–phenotype correlation may be useful for genetic diagnosis or even genetic treatment in the near future.