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Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome.
Nat Genet. 1995 Feb; 9(2):165-72.NGen

Abstract

Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet. We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. Crouzon syndrome, characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2. The contrasting effects of these mutations provide a genetic resource for dissecting the complex effects of signal transduction through FGFRs in cranial and limb morphogenesis.

Authors+Show Affiliations

Institute of Molecular Medicine, John Radcliffe Hospital, Headington, Oxford, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

7719344

Citation

Wilkie, A O., et al. "Apert Syndrome Results From Localized Mutations of FGFR2 and Is Allelic With Crouzon Syndrome." Nature Genetics, vol. 9, no. 2, 1995, pp. 165-72.
Wilkie AO, Slaney SF, Oldridge M, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet. 1995;9(2):165-72.
Wilkie, A. O., Slaney, S. F., Oldridge, M., Poole, M. D., Ashworth, G. J., Hockley, A. D., Hayward, R. D., David, D. J., Pulleyn, L. J., & Rutland, P. (1995). Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genetics, 9(2), 165-72.
Wilkie AO, et al. Apert Syndrome Results From Localized Mutations of FGFR2 and Is Allelic With Crouzon Syndrome. Nat Genet. 1995;9(2):165-72. PubMed PMID: 7719344.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. A1 - Wilkie,A O, AU - Slaney,S F, AU - Oldridge,M, AU - Poole,M D, AU - Ashworth,G J, AU - Hockley,A D, AU - Hayward,R D, AU - David,D J, AU - Pulleyn,L J, AU - Rutland,P, PY - 1995/2/1/pubmed PY - 1995/2/1/medline PY - 1995/2/1/entrez SP - 165 EP - 72 JF - Nature genetics JO - Nat Genet VL - 9 IS - 2 N2 - Apert syndrome is a distinctive human malformation comprising craniosynostosis and severe syndactyly of the hands and feet. We have identified specific missense substitutions involving adjacent amino acids (Ser252Trp and Pro253Arg) in the linker between the second and third extracellular immunoglobulin (Ig) domains of fibroblast growth factor receptor 2 (FGFR2) in all 40 unrelated cases of Apert syndrome studied. Crouzon syndrome, characterized by craniosynostosis but normal limbs, was previously shown to result from allelic mutations of the third Ig domain of FGFR2. The contrasting effects of these mutations provide a genetic resource for dissecting the complex effects of signal transduction through FGFRs in cranial and limb morphogenesis. SN - 1061-4036 UR - https://www.unboundmedicine.com/medline/citation/7719344/Apert_syndrome_results_from_localized_mutations_of_FGFR2_and_is_allelic_with_Crouzon_syndrome_ L2 - https://doi.org/10.1038/ng0295-165 DB - PRIME DP - Unbound Medicine ER -