A novel HECW2 variant in an infant with congenital long QT syndrome.

IF 1 Q4 GENETICS & HEREDITY
Rina Imanishi, Kouichi Nakau, Sorachi Shimada, Hideharu Oka, Ryo Takeguchi, Ryosuke Tanaka, Tatsutoshi Sugiyama, Mitsumaro Nii, Toshio Okamoto, Ken Nagaya, Yoshio Makita, Kumiko Yanagi, Tadashi Kaname, Satoru Takahashi
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引用次数: 0

Abstract

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.

Abstract Image

Abstract Image

一名患有先天性长 QT 综合征的婴儿体内的新型 HECW2 变体
据报道,HECW2 的致病变体可导致伴有肌张力低下、癫痫发作和语言缺失的神经发育障碍(NDHSAL;OMIM #617268)。在一名患有严重心脏并发症的 NDHSAL 婴儿中发现了一种新型 HECW2 变体(NM_001348768.2:c.4343 T > C,p.Leu1448Ser)。该患者出现胎儿快速性心律失常和肾积水,产后被诊断为长 QT 综合征。这项研究为 HECW2 致病变异可导致长 QT 综合征和神经发育障碍提供了证据。
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来源期刊
Human Genome Variation
Human Genome Variation Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
2.30
自引率
0.00%
发文量
39
审稿时长
13 weeks
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