PDF(Pubmed)
Abstract：
UNASSIGNED: To describe a case with Leber\'s hereditary optic neuropathy (LHON) like optic atrophy in the presence of MT-ATP6 gene variant m.8969G > A.
UNASSIGNED: A 20-year-old patient with a history of mild developmental delay, mild cognitive impairment, and positional tremor presented with subacute painless visual loss over a few weeks. Mitochondrial genome sequencing revealed a variant in MT-ATP6, m.8969G > A (p.Ser148Asn). This variant was previously reported in association with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) and with nephropathy, followed by brain atrophy, muscle weakness and arrhythmias, but not with optic atrophy.
UNASSIGNED: Rare variants in MT-ATP6 can also cause LHON like optic atrophy. It is important to perform further genetic analysis of mitochondrial DNA in genetically unsolved cases suspected of Leber\'s hereditary optic neuropathy to confirm the clinical diagnosis.
UNASSIGNED: A 20-year-old patient with a history of mild developmental delay, mild cognitive impairment, and positional tremor presented with subacute painless visual loss over a few weeks. Mitochondrial genome sequencing revealed a variant in MT-ATP6, m.8969G > A (p.Ser148Asn). This variant was previously reported in association with mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) and with nephropathy, followed by brain atrophy, muscle weakness and arrhythmias, but not with optic atrophy.
UNASSIGNED: Rare variants in MT-ATP6 can also cause LHON like optic atrophy. It is important to perform further genetic analysis of mitochondrial DNA in genetically unsolved cases suspected of Leber\'s hereditary optic neuropathy to confirm the clinical diagnosis.
摘要：
■描述一例存在MT-ATP6基因变异m.8969G的Leber遗传性视神经病变(LHON)样视神经萎缩的病例。
■一位有轻度发育迟缓病史的20岁患者，轻度认知障碍，和位置性震颤在几周内表现为亚急性无痛性视力丧失。线粒体基因组测序显示MT-ATP6中的一个变体，m.8969G>A（p。Ser148Asn）。以前报道这种变异与线粒体肌病有关，乳酸性酸中毒,铁粒幼细胞性贫血（MLASA）和肾病，接着是脑萎缩,肌肉无力和心律失常，但不是视神经萎缩.
■MT-ATP6中的罕见变异也可引起LHON样视神经萎缩。在怀疑Leber遗传性视神经病变的遗传未解决病例中，对线粒体DNA进行进一步的遗传分析以确认临床诊断是重要的。
■一位有轻度发育迟缓病史的20岁患者，轻度认知障碍，和位置性震颤在几周内表现为亚急性无痛性视力丧失。线粒体基因组测序显示MT-ATP6中的一个变体，m.8969G>A（p。Ser148Asn）。以前报道这种变异与线粒体肌病有关，乳酸性酸中毒,铁粒幼细胞性贫血（MLASA）和肾病，接着是脑萎缩,肌肉无力和心律失常，但不是视神经萎缩.
■MT-ATP6中的罕见变异也可引起LHON样视神经萎缩。在怀疑Leber遗传性视神经病变的遗传未解决病例中，对线粒体DNA进行进一步的遗传分析以确认临床诊断是重要的。
