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Article

[A case of intellectual disability with long QT syndrome by NAA10 gene variation].

Zhonghua er ke za zhi = Chinese journal of pediatrics - 2 Sept 2024

Wu H, Li B, Hu X P, Zhang Y Y, Jiang J Y, Cheng X Q, Peng Q

Abstract excerpt

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。.

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Identifiers

PMID: 39192452
DOI: 10.3760/cma.j.cn112140-20231225-00459

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