A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3. Issue 2 (13th January 2021)

• Record Type: Journal Article
• Authors: Thuresson, Ann‐Charlotte; Croft, Brittany; Hailer, Yasmin D.; Liminga, Gunnar; Arvidsson, Carl‐Göran; Harley, Vincent R.; Stattin, Eva‐Lena
• Is Part Of: Clinical genetics. Volume 99:Issue 2(2021)
• Page Start: 325
• Page End: 329
• Publication Date: 2021-01-13
• Subjects: FGF9 -- fusion of interphalangeal joints -- multiple synostosis syndrome -- SYNS; Medical genetics -- Periodicals; 616.0420
• DOI: 10.1111/cge.13880
• Languages: English
• ISSNs: 0009-9163

Abstract

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. Abstract :