Abstract
患儿 女，10岁，因“4 d前晕厥1次”就诊，临床表现为晕厥、智力障碍、生长发育落后。多次心电图提示QTc间期延长。全外显子测序发现NAA10基因c.125C>T（p.S42F）杂合突变，为自发变异，诊断为NAA10基因相关智力障碍伴长QT间期综合征。该突变目前报道较少，予以普萘洛尔治疗后患儿未再出现晕厥，复查心电图提示QTc间期较前缩短。.
MeSH terms
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Child
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Electrocardiography*
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Exons
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Female
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Heterozygote
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Humans
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Intellectual Disability* / genetics
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Long QT Syndrome* / diagnosis
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Long QT Syndrome* / genetics
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Male
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Mutation*
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N-Terminal Acetyltransferase A* / genetics
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N-Terminal Acetyltransferase E* / genetics
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Propranolol / therapeutic use
Substances
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N-Terminal Acetyltransferase E
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N-Terminal Acetyltransferase A
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NAA10 protein, human
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Propranolol