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Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome.
Plast Reconstr Surg. 1998 Feb; 101(2):307-11.PR

Abstract

Apert syndrome is a clinically distinctive condition characterized by craniosynostosis, mid-face hypoplasia, and severe symmetrical syndactyly of the hands and feet. Recently, mutations of the fibroblast growth factor receptor 2 (FGFR2) gene have been associated with several craniosynostosis conditions including Apert, Crouzon, Jackson-Weiss, and Pfeiffer syndromes. Mutations detected in Crouzon, Jackson-Weiss, and Pfeiffer syndromes are located at several sites in the FGFR2 gene. However, the mutational spectrum in Apert syndrome is remarkably narrow. Mutations detected thus far in Caucasian patients with this syndrome are exclusively transversions from cytosine to guanine at either nucleotide position 934 (C934G) or 937 (C937G) in the FGFR2 gene. To examine the possibility that the narrow mutational spectrum in Apert syndrome was a result of racial or environmental predilection, we studied three Apert syndrome patients from two unrelated Japanese families for C934G and C937G mutations. The C934G mutation was found in all three patients. This is the first demonstration of FGFR2 gene mutations in Japanese patients. Our evidence that the C934G mutation identified in Caucasian patients also occurs among Japanese patients excludes the possibility of racial or environmental predilection for this mutation. Nucleotide position 934 is a mutational hotspot of the FGFR2 gene in Japanese patients as well, although the mechanism by which the mutation occurs remains to be clarified. Whether C937G is a mutational hotspot in Japanese patients as well remains to be determined.

Authors+Show Affiliations

University Hospital, and Department of Dermatology, School of Medicine, the University of Tokushima, Japan.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

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

Language

eng

PubMed ID

9462761

Citation

Matsumoto, K, et al. "Mutation of the Fibroblast Growth Factor Receptor 2 Gene in Japanese Patients With Apert Syndrome." Plastic and Reconstructive Surgery, vol. 101, no. 2, 1998, pp. 307-11.
Matsumoto K, Urano Y, Kubo Y, et al. Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome. Plast Reconstr Surg. 1998;101(2):307-11.
Matsumoto, K., Urano, Y., Kubo, Y., Nakanishi, H., & Arase, S. (1998). Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome. Plastic and Reconstructive Surgery, 101(2), 307-11.
Matsumoto K, et al. Mutation of the Fibroblast Growth Factor Receptor 2 Gene in Japanese Patients With Apert Syndrome. Plast Reconstr Surg. 1998;101(2):307-11. PubMed PMID: 9462761.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mutation of the fibroblast growth factor receptor 2 gene in Japanese patients with Apert syndrome. AU - Matsumoto,K, AU - Urano,Y, AU - Kubo,Y, AU - Nakanishi,H, AU - Arase,S, PY - 1998/2/14/pubmed PY - 1998/2/14/medline PY - 1998/2/14/entrez SP - 307 EP - 11 JF - Plastic and reconstructive surgery JO - Plast Reconstr Surg VL - 101 IS - 2 N2 - Apert syndrome is a clinically distinctive condition characterized by craniosynostosis, mid-face hypoplasia, and severe symmetrical syndactyly of the hands and feet. Recently, mutations of the fibroblast growth factor receptor 2 (FGFR2) gene have been associated with several craniosynostosis conditions including Apert, Crouzon, Jackson-Weiss, and Pfeiffer syndromes. Mutations detected in Crouzon, Jackson-Weiss, and Pfeiffer syndromes are located at several sites in the FGFR2 gene. However, the mutational spectrum in Apert syndrome is remarkably narrow. Mutations detected thus far in Caucasian patients with this syndrome are exclusively transversions from cytosine to guanine at either nucleotide position 934 (C934G) or 937 (C937G) in the FGFR2 gene. To examine the possibility that the narrow mutational spectrum in Apert syndrome was a result of racial or environmental predilection, we studied three Apert syndrome patients from two unrelated Japanese families for C934G and C937G mutations. The C934G mutation was found in all three patients. This is the first demonstration of FGFR2 gene mutations in Japanese patients. Our evidence that the C934G mutation identified in Caucasian patients also occurs among Japanese patients excludes the possibility of racial or environmental predilection for this mutation. Nucleotide position 934 is a mutational hotspot of the FGFR2 gene in Japanese patients as well, although the mechanism by which the mutation occurs remains to be clarified. Whether C937G is a mutational hotspot in Japanese patients as well remains to be determined. SN - 0032-1052 UR - https://www.unboundmedicine.com/medline/citation/9462761/Mutation_of_the_fibroblast_growth_factor_receptor_2_gene_in_Japanese_patients_with_Apert_syndrome_ L2 - https://Insights.ovid.com/pubmed?pmid=9462761 DB - PRIME DP - Unbound Medicine ER -