Novel 2336-2337 delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa
Novel 2336-2337 delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa
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DOI：
10.1016/j.ajo.2003.12.037
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发表时间：
2004-06-01
影响因子：
4.2
通讯作者：
Tamai, M
中科院分区：
文献类型：
--
作者：
Kawamura, M;Wada, Y;Tamai, M
目的：确定RP1基因突变的频率和种类，并分析一个日本常染色体显性视网膜色素变性（ADRP）家族RP1基因2336 ~ 2337delCT突变的临床特征。设计：病例报告和DNA分析结果。方法：采用直接测序法对96例无血缘关系的ADRP患者进行突变筛选。临床特征由完整的眼科、病理检查确定。结果：在来自日本ADRP家族的两名患者中发现了一种新的RP1基因2336至2337delCT突变。此外，三个ADRP家族携带先前报道的非致病性Arg1933X突变。2336 ~ 2337delCT突变的眼部表现与典型的视网膜色素变性相似，40岁后进展迅速。结论：白人人群中最常见的Arg677X突变未在日本人群中发现；相反，他们发现了一种新的突变。(C) 2004年Elsevier Inc.版权所有。
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 ophthal, mologic 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. (C) 2004 by Elsevier Inc. All rights reserved.