A novel missense variant c.G644A (p.G215E) of the RPGR gene in a Chinese family causes X-linked retinitis pigmentosa.

In conclusion, our study is the first to indicate that the novel missense variant c.G644A (p.G215E) in the RPGR gene might be the disease-causing mutation in this xlRP family, expanding mutation spectrum. These findings facilitate better understanding of the molecular pathogenesis of this disease; provide new insights for genetic counseling and healthcare. PMID: 31652454 [PubMed - in process]

https://www.ncbi.nlm.nih.gov/pubmed/31652454?dopt=Abstract

Source: Bioscience Reports - October 29, 2019 Category: Biomedical Science Authors: Fu J, Cheng J, Zhou Q, Wei C, Chen H, Lv H, Fu J Tags: Biosci Rep Source Type: research