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Am J Ophthalmol. 2004 Jun;137(6):1137-9.

Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa.

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1
Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan.

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.

PMID:
15183808
DOI:
10.1016/j.ajo.2003.12.037
[Indexed for MEDLINE]
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