ArticleAmerican journal of human genetics2002
Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis.
Article in American journal of human genetics, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 84 papers.
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Who cites it
84 citing papers in PubMed, 265 citations in OpenAlex.
- Effects of fibroblast growth factor 2 on muscle precursor cells from mouse limb and extraocular muscle.PloS one · 2026Article
- Generation of human induced pluripotent stem cell lines from patients with FGFR2-linked syndromic craniosynostosis.Disease models & mechanisms · 2025Article
- Article
- Elucidating the Role of Wildtype and Variant FGFR2 Structural Dynamics in (Dys)Function and Disorder.International journal of molecular sciences · 2024Article
- The genetic basis of hydrocephalus: genes, pathways, mechanisms, and global impact.Fluids and barriers of the CNS · 2024Review
- Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes.Human genetics · 2024Article
- Germline EGFR mutations in lung cancer (Review).Oncology letters · 2023Review
- Review
- Crouzon syndrome complicated with binocular strabismus and extraocular muscle fibrosis: a case report.Journal of medical case reports · 2023Article
- FGF signaling in cranial suture development and related diseases.Frontiers in cell and developmental biology · 2023Review
- Article
- Article
- Phenotypic variability of syndromic craniosynostosis caused by c.833G > T in FGFR2: Clinical and genetic evaluation of eight patients from a five-generation family.Molecular genetics & genomic medicine · 2022Article
- Development and validation of an expanded targeted sequencing panel for non-invasive prenatal diagnosis of sporadic skeletal dysplasia.BMC medical genomics · 2021Article
- Article
- Tripod-shaped Syndactyly in Apert Syndrome with FGFR2 p.P253R Mutation.Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India · 2021Article
- Characterization of dental pulp stem cells isolated from a patient diagnosed with Crouzon syndrome.Journal of cellular physiology · 2021Article
- Phage-Displayed Peptides for Targeting Tyrosine Kinase Membrane Receptors in Cancer Therapy.Viruses · 2021Review
- Evaluation of fronto-orbital reconstruction surgery for the treatment of metopic synostosis in Chinese population.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- Ocular biometric features of pediatric patients with fibroblast growth factor receptor-related syndromic craniosynostosis.Scientific reports · 2021Article
24 more citing papers are in PubMed but not listed here.
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15 authors at 10 institutions in 4 countries.
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Abstract
It has been known for several years that heterozygous mutations of three members of the fibroblast growth-factor-receptor family of signal-transduction molecules-namely, FGFR1, FGFR2, and FGFR3-contribute significantly to disorders of bone patterning and growth. FGFR3 mutations, which predominantly cause short-limbed bone dysplasia, occur in all three major regions (i.e., extracellular, transmembrane, and intracellular) of the protein. By contrast, most mutations described in FGFR2 localize to just two exons (IIIa and IIIc), encoding the IgIII domain in the extracellular region, resulting in syndromic craniosynostosis including Apert, Crouzon, or Pfeiffer syndromes. Interpretation of this apparent clustering of mutations in FGFR2 has been hampered by the absence of any complete FGFR2-mutation screen. We have now undertaken such a screen in 259 patients with craniosynostosis in whom mutations in other genes (e.g., FGFR1, FGFR3, and TWIST) had been excluded; part of this screen was a cohort-based study, enabling unbiased estimates of the mutation distribution to be obtained. Although the majority (61/62 in the cohort sample) of FGFR2 mutations localized to the IIIa and IIIc exons, we identified mutations in seven additional exons-including six distinct mutations of the tyrosine kinase region and a single mutation of the IgII domain. The majority of patients with atypical mutations had diagnoses of Pfeiffer syndrome or Crouzon syndrome. Overall, FGFR2 mutations were present in 9.8% of patients with craniosynostosis who were included in a prospectively ascertained sample, but no mutations were found in association with isolated fusion of the metopic or sagittal sutures. We conclude that the spectrum of FGFR2 mutations causing craniosynostosis is wider than previously recognized but that, nevertheless, the IgIIIa/IIIc region represents a genuine mutation hotspot.
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