title: Novel A14841G mutation is associated with high penetrance of LHON/C4171A family.
abstract: We report the clinical and genetic characterization of a Chinese LHON family carrying an ND1/C4171A mutation. This family has high penetrance of visual impairment and extremely low frequency of vision recovery, which is in marked contrast to previously reported results for Korean LHON families with the same mutation. Sequence analysis of the complete mtDNA in the partially defined East Asian haplogroup N9a1 revealed the presence of 29 other variants. A novel heteroplasmic A14841G mutation, one of the variants with a serine substituted for a highly conserved asparagine at amino acid 32 of Cytochrome b (Cytb), may play a synergistic role with the C4171A mutation, leading to significantly different clinical manifestations of LHON among these families. The study further confirmed that C4171A was a rare primary LHON mutation, and the mtDNA background could also contribute to the clinical manifestation of the LHON/C4171A mutation.
authors: Biomedical Engineering Center, Fujian Medical University, Fuzhou, Fujian, China. Julian_yang@mail.fjmu.edu.cn
authors: Juhua
authors: J
authors: Yang
authors: Yihua
authors: Y
authors: Zhu
authors: Lu
authors: L
authors: Chen
authors: Hongxing
authors: H
authors: Zhang
authors: Yi
authors: Y
authors: Tong
authors: Dinggou
authors: D
authors: Huang
authors: Zhiqiang
authors: Z
authors: Zhang
authors: Shi
authors: S
authors: Chen
authors: Xiaoli
authors: X
authors: Han
authors: Xu
authors: X
authors: Ma
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People; D001483:Base Sequence; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D009245:NADH Dehydrogenase / Q000235:genetics*; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D010375:Pedigree; D019683:Penetrance
chemical_list: D009245:NADH Dehydrogenase; C515075:NADH dehydrogenase subunit 1, human