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Determinants of Disease Penetrance in PRPF31-Associated Retinopathy

28 Sept 2021

Abstract excerpt

Retinitis pigmentosa 11 (RP11) is caused by dominant mutations in PRPF31, however a significant proportion of mutation carriers do not develop retinopathy. Here, we investigated the relationship between CNOT3 polymorphism, MSR1 repeat copy number and disease penetrance in RP11 patients and non-penetrant carriers (NPCs). We further characterized PRPF31 and CNOT3 expression in fibroblasts from eight RP11 patients...

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PMID: 34680937
DOI: 10.3390/genes12101542

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