A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.

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.

SUBMITTER: Thuresson AC 

PROVIDER: S-EPMC7839447 | biostudies-literature | 2021 Feb

REPOSITORIES: biostudies-literature