A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.
Clin Genet
; 99(2): 325-329, 2021 02.
Article
em En
| MEDLINE
| ID: mdl-33174625
ABSTRACT
Human multiple synostoses syndrome 3 is an autosomal dominant disorder caused by pathogenic variants in FGF9. Only two variants have been described in FGF9 in humans so far, and one in mice. Here we report a novel missense variant c.566C > G, p.(Pro189Arg) in FGF9. Functional studies showed this variant impairs FGF9 homodimerization, but not FGFR3c binding. We also review the findings of cases reported previously and report on additional features not described previously.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Sinostose
/
Mutação de Sentido Incorreto
/
Fator 9 de Crescimento de Fibroblastos
Tipo de estudo:
Diagnostic_studies
/
Risk_factors_studies
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Suécia