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Novel A14841G mutation is associated with high penetrance of LHON/C4171A family |
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| Authors: | Juhua Yang Yihua Zhu Lu Chen Hongxing Zhang Dinggou Huang Shi Chen Xu Ma |
| Affiliation: | a Biomedical Engineering Center, Fujian Medical University, Fuzhou, Fujian, China b Department of Genetics, National Research Institute for Family Planning, Peking Union Medical College, Beijing, China c Department of Ophthalmology, The First Affiliated Hospital of Fujian Medical University, Fuzhou, Fujian, China d Department of Ophthalmology, Second Hospital of Jinan, Shandong, China e Department of Neurosurgery, Second Hospital of Fuzhou, Fujian, China |
| 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. |
| Keywords: | LHON, Leber&rsquo s hereditary optic neuropathy mtDNA, mitochondrial DNA VEP, visual evoked potentials MAS-PCR, multiplex allele-specific polymerase chain reaction nps, nucleotide positions |
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