Frequency and Spectrum of Mitochondrial ND6 Mutations in 1218 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy

• Published in: Investigative ophthalmology & visual science Vol. 55; no. 3; p. 1321
• Main Authors: Liang, Min, Jiang, Pingping, Li, Feng, Zhang, Juanjuan, Ji, Yanchun, He, Yiqun, Xu, Meifen, Zhu, Jinping, Meng, Xiangjuan, Zhao, Fuxin, Tong, Yi, Liu, Xiaoling, Sun, Yanhong, Zhou, Xiangtian, Mo, Jun Qin, Qu, Jia, Guan, Min-Xin
• Format: Journal Article
• Language: English
• Published: United States 06.03.2014
• Subjects: Adolescent; Adult; Age of Onset; Child; Child, Preschool; China - epidemiology; DNA Mutational Analysis; DNA, Mitochondrial - genetics; Female; Genetic Predisposition to Disease; Genetic Testing - methods; Humans; Incidence; Male; Middle Aged; Mitochondria - genetics; Mutation; NADH Dehydrogenase - genetics; Optic Atrophy, Hereditary, Leber - epidemiology; Optic Atrophy, Hereditary, Leber - genetics; Pedigree; Young Adult; China; mutational screening; ND6 gene; Leber's hereditary optic neuropathy; incidence; mitochondrial DNA

To investigate the molecular pathogenesis of Leber's hereditary optic neuropathy (LHON) in Chinese families. A cohort of 1218 Han Chinese subjects with LHON and 316 control subjects underwent the clinical and genetic evaluation and molecular analysis of mitochondrial (mt)DNA. The age at onset o...