Fetal anomalies
Gene: FGF9

FGF9 (fibroblast growth factor 9)
EnsemblGeneIds (GRCh38): ENSG00000102678
EnsemblGeneIds (GRCh37): ENSG00000102678
OMIM: 600921, Gene2Phenotype
FGF9 is in 5 panels

1 review

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

Association with multiple synostoses syndrome 3:

Thuresson et al. (2021) identified a de novo heterozygous missense variant in FGF9 (Pro189Arg) in 16‐year old boy with multiple synostoses syndrome. Functional studies showed this variant impairs FGF9 homodimerization, but not FGFR3c binding.

Wu et al. (2009) identified a heterozygous missense variant in FGF9 (S99N) in 5-generation Chinese family with AD multiple synostoses syndrome. Variant segregated with disease and was not found in 250 unrelated ethnically matched controls. 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.

Rodriguez-Zabala et al. (2017) identified a heterozygous missense variant in FGF9 (R62G) in a Spanish father and son with multiple synostoses syndrome and craniosynostosis. Variant segregated with disease in the family and was not found in 150 Spanish controls or in the gnomAD database. The mutation appeared to have arisen de novo in the father, as it was not detected in the biologically confirmed unaffected paternal grandparents. Modeling based upon the crystal structure and functional studies confirmed its pathogenicity showing that it impaired homodimerization and FGFR3 binding.

Sentchordi-Montané et al. (2021) identified a heterozygous missense variant in FGF9 (Asn143Tyr) in a young girl with a multiple joint synostosis.

Association with craniosynostosis: single family and animal model.
Created: 17 Jan 2022, 11:12 p.m. | Last Modified: 17 Jan 2022, 11:12 p.m.

Panel Version: 0.2366

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Multiple synostoses syndrome 3, OMIM # 612961; Craniosynostosis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jan 2022, 11:12 p.m.
Last Modified: 17 Jan 2022, 11:12 p.m.
Panel version: 0.2366

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genomics England PanelApp

Phenotypes

Multiple synostoses syndrome 3, OMIM # 612961
Craniosynostosis

OMIM

600921

Clinvar variants

Variants in FGF9

Penetrance

None

Publications

Panels with this gene