De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy
De novo 14484 mitochondrial DNA mutation in monozygotic twins discordant for Leber's hereditary optic neuropathy
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DOI：
10.1212/wnl.49.4.1136
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发表时间：
1997-10-01
期刊：
影响因子：
9.9
通讯作者：
Wallace, DC
中科院分区：
文献类型：
--
作者：
Biousse, V;Brown, MD;Wallace, DC
同卵双胞胎兄弟，临床上与Leber遗传性视神经病变不一致，在线粒体基因14484位点有一个异质性突变，这在他们的母亲中没有检测到。此外，突变发生在罕见的欧洲单倍群X上，而不是通常与14484突变相关的单倍群J。这些数据表明，该家族中的14484个突变是一种新的突变，表明这是一种常见的原发LHON突变的从头发生。
Monozygotic twin brothers, clinically discordant for Leber's hereditary optic neuropathy (LHON), had a heteroplasmic point mutation at position 14484 in the mitochondrial DNA that was not detected in their mother. Moreover, the mutation occurred on the rare European haplogroup X, rather than the haplogroup J commonly associated with the 14484 mutation. These data indicate that the 14484 mutation in this family was a new mutation, indicating that it was the de novo occurrence of a common, primary LHON mutation.