Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families
- Department of Ophthalmology, Dongfang Hospital, Beijing University of Chinese Medicine and Pharmacology, Beijing 100078 (China)
- School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China)
- Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229 (United States)
- Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229 (United States) and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou, Zhejiang 325003 (China) and Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH 45229 (United States)
We report here the clinical, genetic, and molecular characterization of three Chinese families with maternally transmitted Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. In the affected matrilineal relatives, the loss of central vision is bilateral, the fellow eye becoming affected either simultaneously (45%) or sequentially (55%). The penetrances of vision loss in these pedigrees were 27%, 50%, and 60%, respectively. The age-at-onset of vision loss in these families was 14, 19, and 24 years, respectively. Furthermore, the ratios between affected male and female matrilineal relatives were 1:1, 1:1.2, and 1:2, respectively. Mutational analysis of mitochondrial DNA revealed the presence of homoplasmic ND6 T14484C mutation, which has been associated with LHON. The incomplete penetrance and phenotypic variability implicate the involvement of nuclear modifier gene(s), environmental factor(s) or mitochondrial haplotype(s) in the phenotypic expression of the LHON-associated T14484C mutation in these Chinese pedigrees.
- OSTI ID:
- 20854419
- Journal Information:
- Biochemical and Biophysical Research Communications, Vol. 347, Issue 1; Other Information: DOI: 10.1016/j.bbrc.2006.06.075; PII: S0006-291X(06)01371-4; Copyright (c) 2006 Elsevier Science B.V., Amsterdam, The Netherlands, All rights reserved; Country of input: International Atomic Energy Agency (IAEA); ISSN 0006-291X
- Country of Publication:
- United States
- Language:
- English
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