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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

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

Thuresson Ann-Charlotte AC Croft Brittany B Hailer Yasmin D YD Liminga Gunnar G Arvidsson Carl-Göran CG Harley Vincent R VR Stattin Eva-Lena EL

Clinical genetics 20210201 2

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. ...[more]

PMID: 33174625

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