Objective To review retinitis pigmentosa (RP)-related gene researches in China. Methods RP genes and RP gene therapy as key words were searched from those online databases including China Knowledge Resource Integrated Database of China National Knowledge Infrastructure (CNKI), National Center for Biotechnology Information (NCBI), Human Gene Mutation Database (HGMD), and Human Genome Variation Society (HGVS). Related papers written by authors from China or other countries, published from 1991 to 2011 were collected for analysis. Results Overall 60 RP related genes have been identified now. Chinese researchers from 29 hospitals and research institutes confirmed 17 RP-related gene changes (239 mutations, 131 of them are pathogenic) in 300 RP families and 1572 sporadic RP patients from 1991 to 2011, as reported in 66 papers. Mutations in rhodopsin (RHO) gene, NR2E3 gene and RP1 gene were found in 2.0%, 2.9% and 1.0% of Chinese RP patients respectively. The relationship between genotypes and clinical phenotypes were investigated in 15 papers, including RHO gene, RDS gene, RP1 and RPGR or RP3 gene in ADRP families. Gene therapy for RP has been investigated in 4 papers. Seven hundred and eighteen papers about RP genemutation screening have been published from other countries, and more than 2000 variants were identified which including 352 disease-causing mutations. Mutations of RHO gene, RDS and RP1 were found in 25%-50%, 8% and 5% -10% of ADRP patients in Caucasian populations. RPGR mutations were found in 70%-80% of XLRP patients in Caucasian populations, and 50% -60% of mutations are identified in open reading frame (ORF) 15. Totally 391 papers about gene therapy for RP have been published. Conclusions Seventeen RP-related genes have been studied and 131 pathogenic mutations were found in China. Considering Chinese population, our RP research is still behind other countries.
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. ResultsA total of 12 different sequence variants in the NR2E3 gene were identified, including 6 novel sequence variants. 5 variants 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.