Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation
pmid: 19497304
Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation
We report the clinical and genetic characterization of two Chinese LHON families who do not carry the primary LHON-mutations. Mitochondrial genome sequence analysis revealed the presence of a homoplasmic ND1 G3635A mutation in both families. In Family LHON-001, 31 other variants belonging to the East Asian haplogroup R11a were identified and in Family LHON-019, 37 other variants belonging to the East Asian haplogroup D4g were determined. The ND1 G3635A mutation changes the conversed serine110 residue to asparagine. This mutation has been previously described in a single Russian LHON family and has been suggested to contribute to increased LHON expressivity. In addition, a mutation in cytochrome c oxidase subunit II at C7868T (COII/L95F) may act in synergy with G3635A, increasing LHON expressivity in Family LHON-001, which had a higher level of LHON penetrance than Family LHON-019. In summary, the G3635A mutation is confirmed as a rare primary pathogenic mutation for LHON.
- PEKING UNION MEDICAL COLLEGE China (People's Republic of)
- First Affiliated Hospital of Fujian Medical University China (People's Republic of)
- Fujian Medical University China (People's Republic of)
- Chinese Academy of Medical Sciences & Peking Union Medical College China (People's Republic of)
Adult, Male, Adolescent, Base Sequence, DNA Mutational Analysis, NADH Dehydrogenase, Penetrance, Optic Atrophy, Hereditary, Leber, Pedigree, Young Adult, Mutation, Humans, Female
Adult, Male, Adolescent, Base Sequence, DNA Mutational Analysis, NADH Dehydrogenase, Penetrance, Optic Atrophy, Hereditary, Leber, Pedigree, Young Adult, Mutation, Humans, Female
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