Short communication
Novel 2336-2337delCT mutation in RP1 gene in a japanese family with autosomal dominant retinitis pigmentosa

https://doi.org/10.1016/j.ajo.2003.12.037Get rights and content

Abstract

Purpose

To determine the frequency and kinds of mutations in the RP1 gene, and to characterize the clinical features of a Japanese family with autosomal dominant retinitis pigmentosa (ADRP) with a novel 2336 to 2337delCT mutation in the RP1 gene.

Design

Case reports and results of DNA analysis.

Methods

Mutational screening by direct sequencing was performed on 96 unrelated patients with ADRP. The clinical features were determined by complete ophthalmologic examinations.

Results

A novel 2336 to 2337delCT mutation in the RP1 gene was identified in two patients from a Japanese family with ADRP. In addition, three families with ADRP carried a previously reported nonpathogenic Arg1933X mutation. The ophthalmic findings with a 2336 to 2337delCT mutation were similar to those of typical retinitis pigmentosa with rapid progression after age 40 years.

Conclusions

The most common Arg677X mutation in the white population was not found in the Japanese population; instead a novel mutation was found.

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  • E.A Pierce et al.

    Mutations in a gene encoding a new oxygen-regulated photoreceptor protein cause dominant retinitis pigmentosa

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There are more references available in the full text version of this article.

Cited by (0)

This study was supported, in part, by a grant from the Research Committee on Chorioretinal Degenerations and Optic Atrophy, the Ministry of Health, Labour and Welfare of the Japanese Government (T. Ishibashi), Tokyo, Japan, and a Grant-In-Aid for Scientific Research from the Ministry of Education, Science, and Culture of the Japanese Government (Y.W., A-14704044), Tokyo, Japan.

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