Mutations analysis of NR2E3 gene in Chinese patients with retinitis pigmentosa

Abstract

Objective To screen and analyze NR2E3 gene mutations in rentinitis pigmentosa (RP)patients from Ningxia area of China. Method 120 RP patients were enrolled in this study. The patients include 33 autosomal dominant RP (ADRP) patients from 18 families, 20 autosomal recessive RP (ARRP)patients from 15 families, and 67 simplex RP (SRP) patients. 100 healthy people were collected as the control group. PCR and direct DNA sequencing were used to screen the entire coding region and splice sites of NR2E3 gene. Multiple analysis was used to study the effects of NR2E3 gene on RP. Results A total of 12 different sequence variants in the NR2E3 gene were identified, including 6 novel sequence variants. 5variants were detected in non-coding regions; 7 variants were detected on the 4th, 6th, 7th exon which including 3 synonymous mutations and 4 missense mutations. All of them were NR2E3 gene polymorphisms and showed no positive correlation with the RP confirmed by the multivariate logistic regression analysis.The missense mutation of p. Glu121Lys was first found in 1 ADRP proband, 2 SRP patients and 2 control subjects. Among other 8 affected individuals in this ADRP family, 5 patients also had the p. Glu121Lys variant. Notably, the 6 affected individuals with p. Glu121Lys showed more serious ophthalmic findings (early onset and early central visual impairment) than other 3 affected individuals without p. Glu121Lys.Conclusion The mutation frequency of NR2E3 and p. Glu121Lys variant in NR2E3 gene in Ningxia RP patients were lower than previous reports in other populations. Key words: Retinitis pigmentosa/genetics; Genes; Mutation