4.6 Article

Clinical Evidence for the Importance of the Wild-Type PRPF31 Allele in the Phenotypic Expression of RP11

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

  1. Australian National Health and Medical Research Council [GNT116360, GNT1188694, GNT1054712, MRF1142962]
  2. Miocevich Retina Fellowship
  3. McCusker Charitable Foundation
  4. Australian Government International Research Training Program Scholarship
  5. Retina Australia

向作者/读者索取更多资源

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.

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