A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.
FGF9
SYNS
fusion of interphalangeal joints
multiple synostosis syndrome
Journal
Clinical genetics
ISSN: 1399-0004
Titre abrégé: Clin Genet
Pays: Denmark
ID NLM: 0253664
Informations de publication
Date de publication:
02 2021
02 2021
Historique:
received:
17
09
2020
revised:
05
11
2020
accepted:
06
11
2020
pubmed:
12
11
2020
medline:
24
11
2021
entrez:
11
11
2020
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 33174625
doi: 10.1111/cge.13880
pmc: PMC7839447
doi:
Substances chimiques
FGF9 protein, human
0
Fibroblast Growth Factor 9
0
FGFR3 protein, human
EC 2.7.10.1
Receptor, Fibroblast Growth Factor, Type 3
EC 2.7.10.1
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
325-329Informations de copyright
© 2020 The Authors. Clinical Genetics published by John Wiley & Sons Ltd.
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