一名先天性长QT综合征婴儿中的一种新型HECW2变异体。
A novel HECW2 variant in an infant with congenital long QT syndrome.
作者信息
Imanishi Rina, Nakau Kouichi, Shimada Sorachi, Oka Hideharu, Takeguchi Ryo, Tanaka Ryosuke, Sugiyama Tatsutoshi, Nii Mitsumaro, Okamoto Toshio, Nagaya Ken, Makita Yoshio, Yanagi Kumiko, Kaname Tadashi, Takahashi Satoru
机构信息
Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan.
Division of Neonatology, Center for Maternity and Infant Care, Asahikawa Medical University Hospital, Hokkaido, Japan.
出版信息
Hum Genome Var. 2023 Jun 6;10(1):17. doi: 10.1038/s41439-023-00245-w.
Pathogenic variants of HECW2 have been reported in cases of neurodevelopmental disorder with hypotonia, seizures, and absent language (NDHSAL; OMIM #617268). A novel HECW2 variant (NM_001348768.2:c.4343 T > C,p.Leu1448Ser) was identified in an NDHSAL infant with severe cardiac comorbidities. The patient presented with fetal tachyarrhythmia and hydrops and was postnatally diagnosed with long QT syndrome. This study provides evidence that HECW2 pathogenic variants can cause long QT syndrome along with neurodevelopmental disorders.
在患有肌张力减退、癫痫发作和语言缺失的神经发育障碍（NDHSAL；OMIM #617268）病例中，已报告了HECW2的致病变体。在一名患有严重心脏合并症的NDHSAL婴儿中鉴定出一种新的HECW2变体（NM_001348768.2:c.4343 T > C，p.Leu1448Ser）。该患者表现为胎儿心动过速和水肿，出生后被诊断为长QT综合征。这项研究提供了证据，证明HECW2致病变体可导致长QT综合征以及神经发育障碍。
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