Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a

Association of HECW2 variants with developmental and epileptic encephalopathy and knockdown of zebrafish hecw2a

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...

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Veröffentlicht in:American journal of medical genetics. Part A 2021-02, Vol.185 (2), p.377-383
Hauptverfasser: Lu, Qian, Zhang, Meng‐Na, Shi, Xiu‐Yu, Zhang, Ling‐Qiang, Wang, Yang‐Yang, Liu, Li‐Ying, He, Wen, Chen, Hui‐Min, He, Bing, Zou, Li‐Ping
Format: Artikel
Sprache:eng
Schlagworte:
Children
Danio rerio
developmental encephalopathy
Encephalopathy
Epilepsy
Genetics & Heredity
HECW2
Infants
Life Sciences & Biomedicine
Medicin och hälsovetenskap
Science & Technology
Transcription
Ubiquitin
Ubiquitin-protein ligase
zebrafish model
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Beschreibung
Zusammenfassung: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.
ISSN:1552-4825
1552-4833
1552-4833
DOI:10.1002/ajmg.a.61958