ArticleAmerican journal of human genetics2009
Multiple synostoses syndrome is due to a missense mutation in exon 2 of FGF9 gene.
Article in American journal of human genetics, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers, 1 of them a synthesis that pooled it.
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Who cites it
37 citing papers in PubMed, 1 synthesis or guideline pooled it, 86 citations in OpenAlex.
- Review of Recurrently Mutated Genes in Craniosynostosis Supports Expansion of Diagnostic Gene Panels.Genes · 2023Pooled it
- FGF family in health and disease.Molecular biomedicine · 2026Review
- Addressing the diagnostic gap through deep phenotyping.Human genomics · 2026Article
- Exploring the size limits of Bionano optical genome mapping to resolve alternative structures of linked interspersed chromosomal duplications.Genome medicine · 2025Article
- FGF9-FGFR2 Signaling via Osteocytes-Preosteoblasts Crosstalks to Mediate Mechanotransduction-Driven Intramembranous Osteogenesis in the Underdeveloped Maxilla.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Humeroradial Synostosis: An Updated Classification and Differential Diagnosis Based on Genetic Aetiology.Clinical genetics · 2025Review
- Transcriptome integration analysis revealed that miR-103-3p regulates goat myoblast proliferation by targeting FGF18.BMC genomics · 2025Article
- Decoding FGF/FGFR Signaling: Insights into Biological Functions and Disease Relevance.Biomolecules · 2024Review
- Fgf9 promotes incisor dental epithelial stem cell survival and enamel formation.Stem cell research & therapy · 2024Article
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- FGF9 variant in 46,XY DSD patient suggests a role for dimerization in sex determination.Clinical genetics · 2023Article
- New developments in the biology of fibroblast growth factors.WIREs mechanisms of disease · 2022Review
- Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation.Molecular genetics & genomic medicine · 2022Article
- Signaling Pathways in Bone Development and Their Related Skeletal Dysplasia.International journal of molecular sciences · 2021Review
- A novel heterozygous variant in FGF9 associated with previously unreported features of multiple synostosis syndrome 3.Clinical genetics · 2021Article
- Fibroblast growth factor signalling in osteoarthritis and cartilage repair.Nature reviews. Rheumatology · 2020Review
- FGF/FGFR signaling in health and disease.Signal transduction and targeted therapy · 2020Review
- Mouse Models of Syndromic Craniosynostosis.Molecular syndromology · 2019Review
Corrections and comments
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Authors and funding
20 authors at 7 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fibroblast growth factors (FGFs) play diverse roles in several developmental processes. Mutations leading to deregulated FGF signaling can cause human skeletal dysplasias and cancer.(1,2) Here we report a missense mutation (Ser99Asp) in exon 2 of FGF9 in 12 patients with multiple synostoses syndrome (SYNS) in a large Chinese family. In vitro studies demonstrate that FGF9(S99N) is expressed and secreted as efficiently as wild-type FGF9 in transfected cells. However, FGF9(S99N) induces compromised chondrocyte proliferation and differentiation, which is accompanied by enhanced osteogenic differentiation and matrix mineralization of bone marrow-derived mesenchymal stem cells (BMSCs). Biochemical analysis reveals that S99N mutation in FGF9 leads to significantly impaired FGF signaling, as evidenced by diminished activity of Erk1/2 pathway and decreased beta-catenin and c-Myc expression when compared with wild-type FGF9. Importantly, the binding of FGF9(S99N) to its receptor is severely impaired although the dimerization ability of mutant FGF9 itself or with wild-type FGF9 is not detectably affected, providing a basis for the defective FGFR signaling. Collectively, our data demonstrate a previously uncharacterized mutation in FGF9 as one of the causes of SYNS, implicating an important role of FGF9 in normal joint development.
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