A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy

Article ID	Journal	Published Year	Pages	File Type
10761593	Biochemical and Biophysical Research Communications	2012	6 Pages	PDF

Abstract

âº We report the characterization of a four-generation large Chinese family with ADOA. âº We find a new heterozygous mutation c.C1198G in OPA1 gene which may be a novel pathogenic mutation in this pedigree. âº We do not find any mitochondrial DNA mutations associated with optic atrophy. âº Other factors may also contribute to the phenotypic variability of ADOA in this pedigree.

Keywords

LHON GTPase ADOA dynamin-related GTPase opa1 autosomal dominant optic atrophy mutation Chinese guanosine triphosphatase

Related Topics

Life Sciences Biochemistry, Genetics and Molecular Biology Biochemistry

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A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy

Authors

Juanjuan Zhang, Yimin Yuan, Bing Lin, Hao Feng, Yan Li, Xianning Dai, Huihui Zhou, Xujie Dong, Xiao-Ling Liu, Min-Xin Guan,