Leber's Hereditary Optic Neuropathy Affects Only Female Matrilineal Relatives in Two Chinese Families
Investigative Ophthalmology & Visual Science2010Vol. 51(10), pp. 4906–4906
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Jia Qu, Ying Wang, Yi Tong, Xiangtian Zhou, Fuxin Zhao, Li Yang, Shoukang Zhang, Juanjuan Zhang, Constance E. West, Min‐Xin Guan
Abstract
Only female matrilineal relatives with a wide range of penetrance, severity, and age at onset of optic neuropathy in these two Chinese pedigrees showed the involvement of X-linked or autosomal recessive modifier genes in the phenotypic manifestation of the G11778A mutation. Furthermore, mitochondrial haplogroup-specific variants, together with epigenetic and environmental factors, may contribute to the phenotypic manifestation of the primary LHON-associated G11778A mutation in these pedigrees.
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