CNOT3 is a modifier of PRPF31 mutations in retinitis pigmentosa with incomplete penetrance.

ABSTRACT: Heterozygous mutations in the PRPF31 gene cause autosomal dominant retinitis pigmentosa (adRP), a hereditary disorder leading to progressive blindness. In some cases, such mutations display incomplete penetrance, implying that certain carriers develop retinal degeneration while others have no symptoms at all. Asymptomatic carriers are protected from the disease by a higher than average expression of the PRPF31 allele that is not mutated, mainly through the action of an unknown modifier gene mapping to chromosome 19q13.4. We investigated a large family with adRP segregating an 11-bp deletion in PRPF31. The analysis of cell lines derived from asymptomatic and affected individuals revealed that the expression of only one gene among a number of candidates within the 19q13.4 interval significan

SUBMITTER: Venturini G 

PROVIDER: S-EPMC3493449 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature