一名患有视神经萎缩的日本患者OPA1基因的新型突变。
A novel mutation in the OPA1 gene in a Japanese patient with optic atrophy.
作者信息
Shimizu Satoko, Mori Naoki, Kishi Mari, Sugata Hirohisa, Tsuda Akiko, Kubota Nobue
机构信息
Department of Ophthalmology, Teikyo University School of Medicine, Tokyo, Japan.
出版信息
Am J Ophthalmol. 2003 Feb;135(2):256-7. doi: 10.1016/s0002-9394(02)01929-3.
PURPOSE
To report a novel mutation of the OPA1 gene in a Japanese patient with optic atrophy and to describe the clinical features of the patient.
DESIGN
Observational case report.
METHODS
Genomic DNA was extracted from leukocytes of four unrelated Japanese patients with optic atrophy. All the exons and splice sites of the OPA1 gene were amplified by polymerase chain reaction and directly sequenced.
RESULTS
One patient with optic atrophy had a heterozygous Arg445His mutation in the OPA1 gene. The Arg445His mutation was detected neither in 110 control subjects nor in the patient's healthy family members.
CONCLUSIONS
A novel mutation of the OPA1 gene, similar to those reported in Western countries, was detected in a Japanese patient with optic atrophy. Mutations of the OPA1 gene may contribute to the development of optic nerve atrophy in Japanese cases of optic atrophy.
目的
报告一名患有视神经萎缩的日本患者OPA1基因的一种新突变，并描述该患者的临床特征。
设计
观察性病例报告。
方法
从四名无关的患有视神经萎缩的日本患者的白细胞中提取基因组DNA。通过聚合酶链反应扩增OPA1基因的所有外显子和剪接位点并直接测序。
结果
一名患有视神经萎缩的患者在OPA1基因中有杂合的Arg445His突变。在110名对照受试者和该患者的健康家庭成员中均未检测到Arg445His突变。
结论
在一名患有视神经萎缩的日本患者中检测到一种与西方国家报道的类似的OPA1基因新突变。OPA1基因的突变可能导致日本视神经萎缩病例中视神经萎缩的发生。
Zotero 插件