Sun Yan-Hong, Wei Qi-Ping, Zhou Xiangtian, Qian Yaping, Zhou Jian, Lu Fan, Qu Jia, Guan Min-Xin
Department of Ophthalmology, Dongfang Hospital, Beijing University of Chinese Medicine and Pharmacology, China.
Biochem Biophys Res Commun. 2006 Aug 18;347(1):221-5. doi: 10.1016/j.bbrc.2006.06.075. Epub 2006 Jun 21.
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.
我们在此报告了三个母系遗传的Leber遗传性视神经病变（LHON）中国家系的临床、遗传和分子特征。临床和遗传评估显示，这些家系中视力损害的严重程度和发病年龄各不相同。在受影响的母系亲属中，中心视力丧失是双侧性的，另一只眼睛要么同时受到影响（45%），要么相继受到影响（55%）。这些家系中视力丧失的外显率分别为27%、50%和60%。这些家系中视力丧失的发病年龄分别为14岁、19岁和24岁。此外，受影响的母系男性和女性亲属的比例分别为1:1、1:1.2和1:2。线粒体DNA突变分析显示存在纯合的ND6 T14484C突变，该突变与LHON有关。不完全外显率和表型变异性表明，在这些中国家系中，核修饰基因、环境因素或线粒体单倍型参与了与LHON相关的T14484C突变的表型表达。
