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

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

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.

Afiliação

Lu Q; Department of Pediatrics, the First Medical Center, Chinese PLA General Hospital, Beijing, China.
Zhang MN; Department of Pediatrics, the First Medical Center, Chinese PLA General Hospital, Beijing, China.
Shi XY; Department of Pediatrics, the First Medical Center, Chinese PLA General Hospital, Beijing, China.
Zhang LQ; State Key Laboratory of Proteomics, National Center of Protein Sciences (Beijing), Beijing Institute of Lifeomics, Beijing, China.
Wang YY; Department of Pediatrics, the First Medical Center, Chinese PLA General Hospital, Beijing, China.
Liu LY; Department of Pediatrics, the First Medical Center, Chinese PLA General Hospital, Beijing, China.
He W; Department of Pediatrics, the First Medical Center, Chinese PLA General Hospital, Beijing, China.
Chen HM; Beijing Institute of Brain Disorders, Laboratory of Brain Disorders, Ministry of Science and Technology, Collaborative Innovation Center for Brain Disorders, Capital Medical University, Beijing, China.
He B; Division of Matrix Biology, Department of Medical Biochemistry and Biophysics (MBB), Karolinksa Institute, Stockholm, Sweden.
Zou LP; Department of Pediatrics, the First Medical Center, Chinese PLA General Hospital, Beijing, China.

Am J Med Genet A ; 185(2): 377-383, 2021 02.

Article em En | MEDLINE | ID: mdl-33205896

ABSTRACT

ABSTRACT

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.

Assuntos

Encefalopatias/genética; Deficiência Intelectual/genética; Ubiquitina-Proteína Ligases/genética; Proteínas de Peixe-Zebra/genética; Adolescente; Animais; Encefalopatias/epidemiologia; Encefalopatias/patologia; Criança; Pré-Escolar; Modelos Animais de Doenças; Predisposição Genética para Doença; Humanos; Lactente; Deficiência Intelectual/epidemiologia; Deficiência Intelectual/patologia; Masculino; Mutação/genética; Sequenciamento do Exoma; Peixe-Zebra/genética

Palavras-chave

HECW2; developmental encephalopathy; epilepsy; zebrafish model

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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Encefalopatias / Proteínas de Peixe-Zebra / Ubiquitina-Proteína Ligases / Deficiência Intelectual Tipo de estudo: Risk_factors_studies Limite: Adolescent / Animals / Child / Child, preschool / Humans / Infant / Male Idioma: En Revista: Am J Med Genet A Assunto da revista: GENETICA MEDICA Ano de publicação: 2021 Tipo de documento: Article País de afiliação: China

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