Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: FGF9
Comment on list classification: As reviewed by Rebecca Tooze (University of Oxford), there are two unrelated cases and supporting functional evidence available for this gene. Hence, it can be promoted to GREEN at the next GMS update.Created: 10 May 2023, 5:03 p.m. | Last Modified: 10 May 2023, 5:03 p.m.
Panel Version: 4.30
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Multiple synostoses syndrome 3, OMIM:612961
Publications
• Fgf9 elbow-knee-synostosis mouse model develops craniosynostosis and features of multiple synostoses syndrome (Murakami et al., 2002).
• The first FGF9 variant, c.296G>A; p.(Ser99Asn), was reported in a large multigenerational Chinese family (12 patients) with multiple synostoses syndrome 3. Functional studies show that p.(Ser99Asn) compromises chondrocyte proliferation and differentiation, leading to increased osteogenic differentiation and matrix mineralisation of bone marrow-derived mesenchymal stem cells (Wu et al., 2009).
• A father and son with multiple synostoses syndrome and craniosynostosis (the father displayed coronal synostosis, while his son showed premature closure of the sagittal suture) were reported to harbour a heterozygous variant in FGF9: c.184A>G; p.(Arg62Gly) (Rodriguez-Zabala et al., 2017).Created: 2 Mar 2023, 1:26 p.m. | Last Modified: 2 Mar 2023, 1:26 p.m.
Panel Version: 3.4
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Single family, CSS in father and son with missense variant and some fnctional support. Also mouse model. Rodriguez-Zabala Hum Mutat 2017 ; Review on behalf of Tracy Lester and Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 11 Oct 2023, 11:55 a.m. | Last Modified: 11 Oct 2023, 11:55 a.m.
Panel Version: 4.174
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: FGF9; Suggested initial gene rating: redCreated: 5 Mar 2019, 11:21 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag Q2_23_promote_green was removed from gene: FGF9.
Source Expert Review Green was added to FGF9. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_23_promote_green tag was added to gene: FGF9.
Gene: fgf9 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: FGF9 were changed from to Multiple synostoses syndrome 3, OMIM:612961
Publications for gene: FGF9 were set to
Mode of inheritance for gene: FGF9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
gene: FGF9 was added gene: FGF9 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: FGF9 was set to