期刊
GENES
卷 12, 期 6, 页码 -出版社
MDPI
DOI: 10.3390/genes12060915
关键词
retinitis pigmentosa; PRPF31; RP11; natural history; multimodal imaging; microperimetry; genotype-phenotype correlation
资金
- Australian National Health and Medical Research Council [GNT116360, GNT1188694, GNT1054712, MRF1142962]
- Miocevich Retina Fellowship
- McCusker Charitable Foundation
- Australian Government International Research Training Program Scholarship
- Retina Australia
PRPF31-associated retinopathy (RP11) is a form of autosomal dominant retinitis pigmentosa with wide variation in phenotype. Our study found inter-familial and intra-familial variation in the natural history of RP11, suggesting that the phenotype may be related to the wild-type PRPF31 allele rather than the type of mutation. Further studies correlating wild-type PRPF31 allele expression levels with disease patterns are needed to investigate this association.
PRPF31-associated retinopathy (RP11) is a common form of autosomal dominant retinitis pigmentosa (adRP) that exhibits wide variation in phenotype ranging from non-penetrance to early-onset RP. Herein, we report inter-familial and intra-familial variation in the natural history of RP11 using multimodal imaging and microperimetry. Patients were recruited prospectively. The age of symptom onset, best-corrected visual acuity, microperimetry mean sensitivity (MS), residual ellipsoid zone span and hyperautofluorescent ring area were recorded. Genotyping was performed using targeted next-generation and Sanger sequencing and copy number variant analysis. PRPF31 mutations were found in 14 individuals from seven unrelated families. Four disease patterns were observed: (A) childhood onset with rapid progression (N = 4), (B) adult-onset with rapid progression (N = 4), (C) adult-onset with slow progression (N = 4) and (D) non-penetrance (N = 2). Four different patterns were observed in a family harbouring c.267del; patterns B, C and D were observed in a family with c.772_773delins16 and patterns A, B and C were observed in 3 unrelated individuals with large deletions. Our findings suggest that the RP11 phenotype may be related to the wild-type PRPF31 allele rather than the type of mutation. Further studies that correlate in vitro wild-type PRPF31 allele expression level with the disease patterns are required to investigate this association.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据