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.

中文翻译：

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FGF9 中一种新的杂合变异体与先前未报告的多发性关节综合征 3 的特征相关

人类多发性关节病综合征 3 是一种常染色体显性遗传病，由FGF9 中的致病变异引起。迄今为止，仅在人类的FGF9中描述了两种变体，一种在小鼠中。在这里，我们报告了FGF9 中一个新的错义变体 c.566C > G, p.(Pro189Arg) 。功能研究表明该变体损害 FGF9 同二聚化，但不损害 FGFR3c 结合。我们还审查了先前报告的病例的结果，并报告了先前未描述的其他特征。