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首页> 外文期刊>BMC Medical Genetics >Leber’s hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G?>A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene – case report
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Leber’s hereditary optic neuropathy, intellectual disability and epilepsy presenting with variable penetrance associated to the m.3460G?>A mutation and a heteroplasmic expansion of the microsatellite in MTRNR1 gene – case report

机译：Leber的遗传性视神经病变，智障和癫痫发作，伴有m.3460G？> MTRNR1基因微卫星的突变和微卫星的异质性扩展的外pen变化-病例报告

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Leber’s hereditary optic neuropathy (LHON) associated with mutations in mitochondrial DNA (mtDNA) typically manifests only optic nerve involvement but in some patients may develop additional neurological complications. The cause of this association is not clear. We present a case of a 24-year-old male with a history of subacute, painless, and rapidly progressive bilateral vision loss. We performed ophthalmological, neurological and neuropsychological investigations in the proband and his LHON family. The proband showed optic neuropathy, epilepsy, migraine, and intellectual disability; all the maternal relatives did not manifest optic neuropathy but a moderate to severe intellectual disability. Genetic screening revealed a novel association of the LHON m.3460G?>?A primary mutation with the m.T961delT?+?C(n)ins within the mitochondrial encoded 12S RNA (MTRNR1) gene which segregates with the intellectual disability through the maternal branch of the family. We also found a significant increase of mtDNA content in all the unaffected homo/heteroplasmic mutation carriers with respect to either affected or control subjects. This is the first case reporting the co-segregation of a mutation in MTRNR1 gene with a LHON primary mutation, which may be a risk factor of the extraocular signs complicating LHON phenotype. In addition, the data herein reported, confirmed that the key factor modulating the penetrance of optic atrophy in the family is the amount of mtDNA.
机译：Leber的遗传性视神经病变（LHON）与线粒体DNA（mtDNA）突变相关，通常仅表现为视神经受累，但在某些患者中可能会出现其他神经系统并发症。这种关联的原因尚不清楚。我们介绍了一例具有亚急性，无痛和快速进行性双侧视力丧失史的24岁男性。我们在先证者及其LHON家族中进行了眼科，神经科和神经心理学方面的调查。先证者表现出视神经病变，癫痫，偏头痛和智力障碍。所有母亲亲属均未表现出视神经病变，而是中度至重度智力障碍。遗传筛选显示，线粒体编码的12S RNA（MTRNR1）基因中的LHONm.3460Gα>αA初次突变与m.T961delTα+αC（n）ins具有新的关联，该基因与通过母体造成的智力障碍隔离家庭的分支。我们还发现，相对于患病或对照受试者，所有未受影响的同质/异质突变载体中的mtDNA含量均显着增加。这是第一个报道MTRNR1基因突变与LHON一级突变共分离的病例，这可能是使LHON表型复杂化的眼外征的危险因素。另外，本文报道的数据证实，调节家族中视神经萎缩的渗透性的关键因素是mtDNA的量。

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