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

Autor: Thuresson AC; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden., Croft B; Hudson Institute of Medical Research, Monash Medical Centre, Melbourne, Australia.; Department of Molecular and Translational Science, Monash University, Melbourne, Australia., Hailer YD; Section of Orthopaedics, Department of Surgical Sciences, Uppsala University, Sweden., Liminga G; Department of Women and Children's Health, Paediatric Neurology, Uppsala University, Uppsala, Sweden., Arvidsson CG; Department of Paediatrics, Västmanland's Hospital, Västerås, Sweden., Harley VR; Hudson Institute of Medical Research, Monash Medical Centre, Melbourne, Australia., Stattin EL; Department of Immunology, Genetics and Pathology, Science for Life Laboratory Uppsala, Uppsala University, Uppsala, Sweden.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2021 Feb; Vol. 99 (2), pp. 325-329.
DOI: 10.1111/cge.13880
Abstrakt: 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.
(© 2020 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.)
Databáze: MEDLINE
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