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