Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene
Clinical features of a Japanese family with autosomal dominant retinitis pigmentosa associated with a Thr494Met mutation in the HPRP3 gene
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DOI：
10.1007/s00417-004-0923-x
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发表时间：
2004-11-01
影响因子：
2.7
通讯作者：
Tamai, M
中科院分区：
文献类型：
--
作者：
Wada, Y;Itabashi, T;Tamai, M
目的：确定一个与HPRP 3基因Thr 494 Met突变相关的常染色体显性视网膜色素变性（ADRP）日本家族的临床特征。方法：采用直接测序法对96例无血缘关系的ADRP患者进行基因突变筛查。通过视力、裂隙灯生物显微镜、视网膜电图、荧光素血管造影和动态视野检查确定临床特征。结果：在1个家系中发现HPRP 3基因Thr 494 Met突变，并与ADRP共分离。眼科表现为典型的视网膜色素变性，在40岁后迅速进展。一名患者在儿童时期也患有视网膜母细胞瘤。结论：我们得出结论，HPRP 3基因中的Thr-494 Met突变导致日本患者的ADRP。这种突变在日本1%的ADRP患者中发现。
Purpose: To determine the clinical features of a Japanese family with autosomal dominant retinitis pigmentosa (ADRP) associated with a Thr494Met mutation in the HPRP3 gene. Methods: Mutational screening by direct sequencing was performed on 96 unrelated patients with ADRP. The clinical features were determined by visual acuity, slit-lamp biomicroscopy, electroretinography, fluorescein angiography, and kinetic visual field testing. Results: A Thr494Met mutation in the HPRP3 gene was found in one family and it cosegregated with ADRP in the three affected members. The ophthalmic findings were those of typical retinitis pigmentosa with rapid progression after 40-years-of-age. One patient also had retinoblastoma as a child. Conclusion: We conclude that the Thr-494Met mutation in the HPRP3 gene causes ADRP in Japanese patients. This mutation was found in 1% of patients with ADRP in Japan.