一个患有常染色体显性遗传性视网膜色素变性的日本家族中RP1基因的新型2336 - 2337delCT突变
Novel 2336-2337delCT mutation in RP1 gene in a Japanese family with autosomal dominant retinitis pigmentosa.
作者信息
Kawamura Miyuki, Wada Yuko, Noda Yoshihiro, Itabashi Toshitaka, Ogawa Soh-Ichiro, Sato Hajime, Tanaka Kenji, Ishibashi Tasturo, Tamai Makoto
机构信息
Department of Ophthalmology, Tohoku University School of Medicine, Sendai, Japan.
出版信息
Am J Ophthalmol. 2004 Jun;137(6):1137-9. doi: 10.1016/j.ajo.2003.12.037.
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.
目的
确定RP1基因中的突变频率和种类，并描述一个患有常染色体显性视网膜色素变性（ADRP）的日本家族的临床特征，该家族的RP1基因存在一种新的2336至2337位CT缺失突变。
设计
病例报告及DNA分析结果。
方法
对96例无关的ADRP患者进行直接测序的突变筛查。通过全面的眼科检查确定临床特征。
结果
在一个患有ADRP的日本家族的两名患者中鉴定出RP1基因中一种新的2336至2337位CT缺失突变。此外，三个ADRP家族携带先前报道的无致病性的Arg1933X突变。携带2336至2337位CT缺失突变的眼科检查结果与40岁后快速进展的典型视网膜色素变性相似。
结论
在日本人群中未发现白种人群中最常见的Arg677X突变；相反，发现了一种新的突变。
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