Mutations in the Pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa
Mutations in the Pre-mRNA splicing gene, PRPF31, in Japanese families with autosomal dominant retinitis pigmentosa
复制标题
DOI：
10.1016/j.ajo.2005.02.050
复制
发表时间：
2005-09-01
影响因子：
4.2
通讯作者：
Tamai, M
中科院分区：
文献类型：
--
作者：
Sato, H;Wada, Y;Tamai, M
目得：描述三个与PRPF 31基因突变相关的常染色体显性视网膜色素变性（ADRP）日本家族的临床和遗传特征。设计：病例报告和DNA分析结果。方法：通过直接测序对96例不相关的ADRP患者进行PRPF 31基因突变筛查。结果：在3个无血缘关系的日本ADRP家系中发现PRPF 31基因的3个突变，分别为1142 delG、1155-1159 delGGACG/insAGG-GATT和IVS 6 → 3 →-45 del. 1142 delG和1155- 1159 delGGACG/insAGGGATT突变是新的。受影响的家庭成员的表型是典型的视网膜色素变性（RP）。结论：PRPF 31基因的1142 delG和1155- 1159 delGGACG/insAGGGATT突变导致RP。日本ADRP患者PRPF 31基因突变的患病率约为3%。然而，重要的是要注意，有无症状的专性携带者。(Am J Ophthalmol 2005;140：537-540. (c)2005年，Elsevier Inc.保留所有权利。
PURPOSE: To describe the clinical and genetic characteristics of three Japanese families with autosomal dominant retinitis pigmentosa (ADRP) associated with mutations in the PRPF31 gene.DESIGN: Case reports and results of DNA analysis.METHODS: Mutational screening of the PRPF31 gene was performed on 96 unrelated patients with ADRP by direct sequencing. The clinical features were characterized by complete ophthalmologic examinations.RESULTS: Three mutations in the PRPF31 gene, designated as 1142delG, 1155-1159 delGGACG/insAGG-GATT, and IVS6 to 3 to -45del, were identified in three unrelated Japanese families with ADRP. The 1142delG and 1155-1159delGGACG/insAGGGATT mutations are novel. The phenotype of affected family members was typical of retinitis pigmentosa (RP). Additionally, we identified asymptomatic obligate carriers.CONCLUSIONS: The 1142delG and 1155-1159delGGACG/insAGGGATT mutations in the PRPF31 gene cause RP. The prevalence of mutations in the PRPF31 gene in Japanese patients with ADRP is approximately 3%. However, it is important to note that there are asymptomatic obligate carriers. (Am J Ophthalmol 2005;140:537-540. (c) 2005 by Elsevier Inc. All rights reserved).