Thuresson AC, Croft B, Hailer YD, Liminga G, Arvidsson CG, Harley VR, Stattin EL
Clin. Genet. 99 (2) 325-329 [2021-02-00; online 2020-11-12]
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.
Bioinformatics Compute and Storage [Service]
Clinical Genomics Uppsala [Service]