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Jpn J Ophthalmol. 2007 Jan-Feb;51(1):45-8. Epub 2007 Feb 9.

Mutation c. 1142 del G in the PRPF31 gene in a family with autosomal dominant retinitis pigmentosa (RP11) and its implications.

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  • 1Department of Ophthalmology, Hirosaki University School of Medicine, Hirosaki, Japan. mitsuru@cc.hirosaki-u.ac.jp

Abstract

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.

(c) Japanese Ophthalmological Society 2007.

PMID:
17295140
[PubMed - indexed for MEDLINE]
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