Mutations in the Pre-mRNA Splicing-Factor Genes<i>PRPF3</i>,<i>PRPF8</i>, and<i>PRPF31</i>in Spanish Families with Autosomal Dominant Retinitis Pigmentosa

Abstract

Nine mutations, six of which are novel, in the pre-mRNA splicing-factor genes PRPF3, PRPF8, and PRPF31, causing adRP have been identified in the Spanish population. Their contribution to adRP is approximately 5% after correction in relation to mutations found in other genes causing adRP. The patients carrying a mutation in the pre-mRNA splicing-factor PRPF8 gene showed a type 1 diffuse RP. The existence of asymptomatic carriers of the nonsense mutation in the PRPF31 gene suggests incomplete penetrance for these mutations in the families.