Mutation c. 1142 del G in the PRPF31 Gene in a Family with Autosomal Dominant Retinitis Pigmentosa (RP11) and Its Implications

K Taira, M Nakazawa, M Sato - Japanese journal of ophthalmology, 2007 - Springer
K Taira, M Nakazawa, M Sato
Japanese journal of ophthalmology, 2007Springer
Purpose To identify a mutation in the PRPF31 gene in a family (Family K) with autosomal
dominant retinitis pigmentosa (adRP) linked to 19q13. 4 (RP11) and to find the frequency of
mutations in the PRPF31 gene among Japanese families with adRP. Methods Genomic
DNA specimens were prepared from five symptomatic and two asymptomatic members of
Family K and an additional 39 patients of 39 unrelated families with adRP. Coding regions of
the PRPF31 gene were amplified by polymerase chain reaction. The amplicons were …
Purpose
To identify a mutation in the PRPF31 gene in a family (Family K) with autosomal dominant retinitis pigmentosa (adRP) linked to 19q13.4 (RP11) and to find the frequency of mutations in the PRPF31 gene among Japanese families with adRP.
Methods
Genomic DNA specimens were prepared from five symptomatic and two asymptomatic members of Family K and an additional 39 patients of 39 unrelated families with adRP. Coding regions of the PRPF31 gene were amplified by polymerase chain reaction. The amplicons were analyzed by a direct sequencing method.
Results
All seven family members had a heterozygous c.1142delG mutation in the PRPF31 gene, which was identical to the mutation previously reported in a different Japanese family. No other mutation was found in the PRPF31 gene among the 39 additional patients with adRP.
Conclusion
Although the frequency of mutations in the PRPF31 gene is about 2.5% in Japanese families with adRP, it is possible that c.1142delG is a common mutation among Japanese patients with adRP associated with mutations in the PRPF31 gene. Jpn J Ophthalmol 2007;51:45–48 © Japanese Ophthalmological Society 2007
Springer