Second patient with GNB2-related neurodevelopmental disease: Further evidence for a gene-disease association.
Eur J Med Genet
; 64(7): 104243, 2021 Jul.
Article
em En
| MEDLINE
| ID: mdl-33971351
ABSTRACT
G-proteins are ubiquitously expressed heterotrimeric proteins consisting of α, ß and γ subunits and mediate G-protein coupled receptor signalling cascades. The ß subunit is encoded by one of five highly similar paralogs (GNB1-GNB5, accordingly). The developmental importance of G-proteins is highlighted by the clinical relevance of variants in genes such as GNB1, which cause severe neurodevelopmental disease (NDD). Recently the candidacy of GNB2 was raised in association with NDD in an individual with a de novo variant affecting a codon conserved across paralogs and recurrently mutated in GNB1-related disease, c.229G>A p.(Gly77Arg), in association with global developmental delay, intellectual disability and dysmorphic features. Here, we report a patient with strikingly similar facial features and NDD in association with a de novo GNB2 variant affecting the same codon, c.229G>T p.(Gly77Trp). In addition, this individual has epilepsy and overgrowth. Our report is the second to implicate a de novo GNB2 variant with a severe yet variable NDD.
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Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Deficiências do Desenvolvimento
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Anormalidades Craniofaciais
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Proteínas de Ligação ao GTP
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Epilepsia
Tipo de estudo:
Risk_factors_studies
Limite:
Adolescent
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Female
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Humans
Idioma:
En
Revista:
Eur J Med Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Estados Unidos