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首页> 外文期刊>Molecular genetics and metabolism >Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.
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Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.

机译：在一个携带ND4 G11778A突变的汉族大谱系中，Leber的外显率很高，并且发生了Leber的遗传性视神经病变。

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摘要

We report here the clinical, genetics and molecular characterization of a five-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON). Strikingly, this family exhibits very high penetrance and occurrence of optic neuropathy. In particular, 25 (10 males/15 females) of 30 matrilineal relatives exhibited the variable severity, ranging from profound to mild of visual impairment. This penetrance of optic neuropathy in this Chinese family is much higher than those in many families with LHON worldwide. The age-at-onset for visual impairment in matrilineal relatives in this Chinese family varied from 7 to 24years old, with the average of 15 years old. Furthermore, the ratio between affected male and female matrilineal relatives is 1:1.5 in the Chinese family. This observation is in contrast with the typical features in LHON pedigrees that there was predominance of affected males in LHON in many families from different ethnic origins. Molecular analysis of mitochondrial genome identified the known ND4 G11778A mutation and 51 variants, belonging to Asian haplogroup C4a1. The absence of other known secondary LHON-associated and functionally significant mtDNA mutations in this Chinese family suggested that mitochondrial variants may not play an important role in the phenotypic manifestation of the G11778A mutation in this Chinese family. Therefore, nuclear modifier gene(s) may be responsible for very high penetrance and occurrence of optic neuropathy in this Chinese pedigree.
机译：我们在这里报告具有Leber遗传性视神经病变（LHON）的五代汉族家庭的临床，遗传和分子特征。令人惊讶的是，这个家族表现出很高的外露率和视神经病变的发生率。特别地，30个母系亲戚中有25个（男性10个，女性15个）表现出不同的严重程度，范围从严重到轻度视觉障碍。在这个中国家庭中，视神经病变的外显率远高于世界上许多患有LHON的家庭。这个中国家庭的母系亲属视力障碍的发病年龄从7岁到24岁不等，平均15岁。此外，在中国家庭中，受影响的母系亲属之间的比例为1：1.5。该观察结果与LHON谱系中的典型特征相反，LHON谱系中的典型特征是，来自不同族裔的许多家庭在LHON中普遍存在受影响的男性。线粒体基因组的分子分析确定了已知的ND4 G11778A突变和51个变异体，属于亚洲单倍体C4a1。在这个中国家庭中，没有其他已知的与LHON相关的继发性和功能上显着的mtDNA突变，这表明线粒体变异可能在该中国家庭的G11778A突变表型表现中不发挥重要作用。因此，在这个中国谱系中，核修饰基因可能是导致很高的外露率和视神经病变发生的原因。

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