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
en 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.
Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Sinostosis
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Mutación Missense
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Factor 9 de Crecimiento de Fibroblastos
Tipo de estudio:
Diagnostic_studies
/
Risk_factors_studies
Límite:
Adolescent
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Humans
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Male
Idioma:
En
Revista:
Clin Genet
Año:
2021
Tipo del documento:
Article
País de afiliación:
Suecia