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Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a
Author(s) -
Lu Qian,
Zhang MengNa,
Shi XiuYu,
Zhang LingQiang,
Wang YangYang,
Liu LiYing,
He Wen,
Chen HuiMin,
He Bing,
Zou LiPing
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61958
Subject(s) - zebrafish , gene knockdown , ubiquitin ligase , epilepsy , ubiquitin , encephalopathy , biology , genetics , medicine , bioinformatics , neuroscience , gene
Developmental and epileptic encephalopathy (DEE) is a severe encephalopathy in infants and early childhood. In this study we reported a recurrent de novo variant (c.3985C>T, p.R1330W) in HECW2 (HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2) (MIM# 617245) identified by screening 240 patients with DEE and summarized clinical features of published DEE patients with HECW2 variants. Functionally, transcriptional knockdown of zebrafish hecw2a led to early morphological abnormalities in the brain tissues. These results suggest a potential functional link between HECW2 dysfunction and brain development.