Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy
Novel 615delC mutation in the CRX gene in a Japanese family with cone-rod dystrophy
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DOI：
10.1016/j.ajo.2004.05.067
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发表时间：
2004-11-01
影响因子：
4.2
通讯作者：
Tamai, M
中科院分区：
文献类型：
--
作者：
Itabashi, T;Wada, Y;Tamai, M
目的：描述与视锥杆同源盒 (CRX) 基因中新型 615delC 突变相关的视锥杆营养不良日本家族的临床特征。设计：病例报告和DNA分析结果。方法：通过直接测序对CRX基因的三个外显子进行突变筛查。通过视力测量、视网膜电图和动态视野测试来评估临床特征。结果：鉴定出 CRX 基因中的 615delC 突变，并发现该突变与视锥杆营养不良症共分离。眼科检查结果包括视网膜电图 (ERG) 呈阴性的视锥杆营养不良，并且在 40 岁后迅速进展。结论：这些发现表明 615delC 突变导致 ERG 呈阴性的视锥杆营养不良。我们的患者和文献中报道的其他患者的 CRX 基因的基因型-表型相关性表明，ERG 型阴性可能是 CRX 基因发生突变的好迹象。 （美国眼科杂志 2004 年；138：876-877。(C) 2004 年，Elsevier Inc. 保留所有权利。）。
PURPOSE: To characterize the clinical features of a Japanese family with cone,rod dystrophy associated with a novel 615delC mutation in the cone,rod homeobox (CRX) gene. DESIGN: Case reports and results of DNA analysis.METHODS: Mutational screening by direct sequencing was performed for the three exons in the CRX gene. The clinical features were evaluated by visual acuity measurements, electroretinography, and kinetic visual field testing.RESULTS: A 615delC mutation in the CRX gene was identified and found to cosegregate with cone-rod dystrophy. The ophthalmic findings included cone-rod dystrophy with negative-type electroretinograms (ERGs) and a rapid progression after the age of 40 years.CONCLUSION: These findings indicate that the 615delC mutation causes cone-rod dystrophy with a negative-type ERG. The genotype-phenotype correlation in the CRX gene in our patient and others reported in the literature suggest that the negative,type ERG might be a good sign for having a mutation in the CRX gene. (Am J Ophthalmol 2004;138:876-877. (C) 2004 by Elsevier Inc. All rights reserved.).