HECW2-related disorder in four Japanese patients.
Am J Med Genet A
; 185(10): 2895-2902, 2021 10.
Article
em En
| MEDLINE
| ID: mdl-34047014
ABSTRACT
The HECT, C2, and WW domain containing E3 ubiquitin protein ligase 2 gene (HECW2) is involved in protein ubiquitination. Several genes associated with protein ubiquitination have been linked to neurodevelopmental disorders. HECW2-related disorder has been established through the identification of de novo variants in HECW2 in patients with neurodevelopmental disorders with hypotonia, seizures, and absent language. Recently, we identified novel HECW2 variants in four Japanese patients with neurodevelopmental disorders. Regarding motor development, two of the patients cannot walk, whereas the other two can walk with an unsteady gait, owing to hypotonia. All HECW2 variants, including those that were previously reported, are missense, and no loss-of-function variants have been identified. Most of the identified variants are located around the HECT domain. These findings suggest that the dominant negative effects of missense variants around the HECT domain may be the mechanism underlying HECW2-related disorder.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Convulsões
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Ubiquitina-Proteína Ligases
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Transtornos do Neurodesenvolvimento
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Hipotonia Muscular
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Child
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Child, preschool
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Female
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Humans
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Infant
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Male
/
Newborn
País/Região como assunto:
Asia
Idioma:
En
Ano de publicação:
2021
Tipo de documento:
Article