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Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes.
Nat Genet. 1995 Feb; 9(2):173-6.NGen

Abstract

Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis). A mutation in FGFR1 has been established in several families with Pfeiffer syndrome, where craniosynostosis is associated with specific digital abnormalities. We now report point mutations in FGFR2 in seven sporadic Pfeiffer syndrome patients. Six of the seven Pfeiffer syndrome patients share two missense mutations, which have also been reported in Crouzon syndrome. The Crouzon and Pfeiffer phenotypes usually breed true within families and the finding of identical mutations in unrelated individuals giving different phenotypes is a highly unexpected observation.

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Authors+Show Affiliations

Rutland P
Mothercare Unit of Clinical Genetics, Institute of Child Health, London, UK.
Pulleyn LJ
No affiliation info available
Reardon W
No affiliation info available
Baraitser M
No affiliation info available
Hayward R
No affiliation info available
Jones B
No affiliation info available
Malcolm S
No affiliation info available
Winter RM
No affiliation info available
Oldridge M
No affiliation info available
Slaney SF
No affiliation info available

MeSH

AcrocephalosyndactyliaBase SequenceCraniofacial DysostosisFemaleHumansMaleMolecular Sequence DataMutationPhenotypeReceptor Protein-Tyrosine KinasesReceptor, Fibroblast Growth Factor, Type 2Receptors, Fibroblast Growth Factor

Pub Type(s)

Case Reports
Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

7719345

Citation

Rutland, P, et al. "Identical Mutations in the FGFR2 Gene Cause Both Pfeiffer and Crouzon Syndrome Phenotypes." Nature Genetics, vol. 9, no. 2, 1995, pp. 173-6.
Rutland P, Pulleyn LJ, Reardon W, et al. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet. 1995;9(2):173-6.
Rutland, P., Pulleyn, L. J., Reardon, W., Baraitser, M., Hayward, R., Jones, B., Malcolm, S., Winter, R. M., Oldridge, M., & Slaney, S. F. (1995). Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nature Genetics, 9(2), 173-6.
Rutland P, et al. Identical Mutations in the FGFR2 Gene Cause Both Pfeiffer and Crouzon Syndrome Phenotypes. Nat Genet. 1995;9(2):173-6. PubMed PMID: 7719345.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. A1 - Rutland,P, AU - Pulleyn,L J, AU - Reardon,W, AU - Baraitser,M, AU - Hayward,R, AU - Jones,B, AU - Malcolm,S, AU - Winter,R M, AU - Oldridge,M, AU - Slaney,S F, PY - 1995/2/1/pubmed PY - 1995/2/1/medline PY - 1995/2/1/entrez SP - 173 EP - 6 JF - Nature genetics JO - Nat Genet VL - 9 IS - 2 N2 - Mutations in the fibroblast growth factor receptor 2 (FGFR2) gene have been identified in Crouzon syndrome, an autosomal dominant condition causing premature fusion of the cranial sutures (craniosynostosis). A mutation in FGFR1 has been established in several families with Pfeiffer syndrome, where craniosynostosis is associated with specific digital abnormalities. We now report point mutations in FGFR2 in seven sporadic Pfeiffer syndrome patients. Six of the seven Pfeiffer syndrome patients share two missense mutations, which have also been reported in Crouzon syndrome. The Crouzon and Pfeiffer phenotypes usually breed true within families and the finding of identical mutations in unrelated individuals giving different phenotypes is a highly unexpected observation. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/7719345/Identical_mutations_in_the_FGFR2_gene_cause_both_Pfeiffer_and_Crouzon_syndrome_phenotypes_ L2 - https://doi.org/10.1038/ng0295-173 DB - PRIME DP - Unbound Medicine ER -