FGFR2 fibroblast growth factor receptor 2

Gene info

Synonyms

CEK3, TK14, TK25, ECT1, K-SAM, CD332

Previous symbol

KGFR, BEK, CFD1, JWS

External ID

HGNC: 3689
Entrez Gene: 2263
Ensembl: ENSG00000066468
UCSC: uc057wle.1
OMIM: 176943
UniProtKB: P21802

Disease info

Disease

CHD Phenotype

  • Atrial septal defect
  • Ventricular septal defect
  • Persistent ductus arteriosus
  • Pulmonary stenosis
  • Coarctation of the aorta
  • Tetralogy of fallot
  • Hypoplastic left heart syndrome

Extra Cardiac Phenotype

Deceleration of linear growth during childhood , Acrobrachycephaly, Turribrachycephaly, Large fontanel, Late-closing fontanel, Megalencephaly, High, broad forehead, Flat face, Midface hypoplasia, Mandibular prognathism , Hearing loss, Chronic otitis media, Abnormal semicircular canals, Shallow orbits, Hypertelorism, Downslanting palpebral fissures, Proptosis, Depressed nasal bridge, Choanal stenosis or atresia, Strabismus, Narrow palate, Cleft palate, Bifid uvula, Malocclusion, Delayed dental eruption, Anomalous tracheal cartilage, Pyloric stenosis, Esophageal atresia, Ectopic anus, Cryptorchidism, Vaginal atresia, Hydronephrosis, Craniosynostosis (coronal), Jugular foraminal stenosis, Cervical vertebrae fusion (usually at C5 to C6), Synostosis of radius and humerus, Fusion of carpal bones (especially capitate and hamate), Symmetric osseous and/or cutaneous syndactyly of hands and feet, Broad distal phalanx of thumb, Polydactyly (preaxial), Polydactyly (postaxial), Broad distal hallux, Moderate to severe acne, Single nail common to digits 2 to 4, Variable mental retardation, Agenesis of the corpus callosum, Ventriculomegaly, Absent septum pellucidum, Limbic malformations, Chiari I malformation, Low-lying cerebellar tonsils, Posterior fossa arachnoid cyst, Hydrocephalus

Incomplete penetrance

Unknown

Variable expressivity

Yes

Animal model

Mouse study

Mice lacking FGFR2 IIIb isoform have CHD.

MGI ID

Variant info

Clinvar

Selected variant

The Clinvar variants presented in the below IGV track were selected based on the following criteria.

  1. Variant types are single nucleotide variant or Indel
  2. Clinical significance for the variant was assessed to be Pathogenic or Likely Pathogenic
  3. ClinVar review status for the variant is criteria provided

Download annotation file for FGFR2: BED file

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Selected References

  1. Cohen, M. M., & Kreiborg, S. (1993). Visceral anomalies in the Apert syndrome. American Journal of Medical Genetics, 45(6), 758–760. DOI:10.1002/ajmg.1320450618 PMID:8456856
  2. Oldridge, M. (1997). Genotype-phenotype correlation for nucleotide substitutions in the IgII- IgIII linker of FGFR2. Human Molecular Genetics, 6(1), 137–143. DOI:10.1093/hmg/6.1.137 PMID:9002682
  3. Wilkie, A. O. M., Slaney, S. F., Oldridge, M., Poole, M. D., Ashworth, G. J., Hockley, A. D., … Reardon, W. (1995). Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genetics, 9(2), 165–172. DOI:10.1038/ng0295-165 PMID:7719344