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Sato, H. et al.

Sato, Wada, Itabashi, Nakamura, Kawamura, Tamai,

Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa.

PURPOSE: To describe the clinical and genetic characteristics of three Japanese families with autosomal dominant retinitis pigmentosa (ADRP) associated with mutations in the PRPF31 gene. DESIGN: Case reports and results of DNA analysis. METHODS: Mutational screening of the PRPF31 gene was performed on 96 unrelated patients with ADRP by direct sequencing. The clinical features were characterized by complete ophthalmologic examinations. RESULTS: Three mutations in the PRPF31 gene, designated as 1142delG, 1155-1159delGGACG/insAGGGATT, and IVS6 to 3 to -45del, were identified in three unrelated Japanese families with ADRP. The 1142delG and 1155-1159delGGACG/insAGGGATT mutations are novel. The phenotype of affected family members was typical of retinitis pigmentosa ( RP). Additionally, we identified asymptomatic obligate carriers. CONCLUSIONS: The 1142delG and 1155-1159delGGACG/insAGGGATT mutations in the PRPF31 gene cause RP. The prevalence of mutations in the PRPF31 gene in Japanese patients with ADRP is approximately 3%. However, it is important to note that there are asymptomatic obligate carriers.[1]

References

Mutations in the pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa. Sato, H., Wada, Y., Itabashi, T., Nakamura, M., Kawamura, M., Tamai, M. Am. J. Ophthalmol. (2005) [Pubmed]

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