Novel homozygotic mutation in the NR2E3 gene in a family affected with Goldmann-Favre syndrome

Abstract

Objective To identify the pathogenic genes and mutations in a Hui population family with Goldmann-Favre syndrome. Methods A two-generation Hui population family with consanguineous marriage including 4 individuals was enrolled in this study. DNA was extracted from 4 ml peripheral venous blood of all participants. The DNA sequence was performed by Ophthalmology Gene panel sequencing through Ion PGM platform. Then the selected mutations were proved by PCR-Sanger sequencing method. Pathogenic analysis of the mutation was done by means of retrieving PubMed and related databases. And the function of mutation effect was interpreted by protein prediction software. Results The sequence result showed that a novel homozygous mutation in NR2E3, c.925C> T (p.R309W), which resulted in conversion of arginine to tryptophan at position 309 of the photoreceptor-specific retinal nuclear receptor. Parents of the proband were carriers of the heterozygous mutation. The 309 amino acid locus of NR2E3 protein product was highly conserved among species, and protein prediction softwares predicted the mutation as harmful. Conclusion The homozygous mutation c.925C> T (p.R309W) in NR2E3 cause Goldmann-Favre syndrome in this patient. Key words: Goldmann-Favre syndrome; NR2E3 gene; Mutation