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

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

doi:10.1038/s41439-023-00245-w

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

Hum Genome Var. 2023 Jun 6;10(1):17. doi: 10.1038/s41439-023-00245-w.

Authors

Affiliations

¹ Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan.
² Division of Neonatology, Center for Maternity and Infant Care, Asahikawa Medical University Hospital, Hokkaido, Japan.
³ Department of Genetic Counseling, Asahikawa Medical University Hospital, Hokkaido, Japan.
⁴ Department of Genome Medicine, National Center for Child Health and Development, Tokyo, Japan.
⁵ Department of Pediatrics, Asahikawa Medical University, Hokkaido, Japan. satoru5p@asahikawa-med.ac.jp.

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.