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FGFR2 mutations among Thai children with Crouzon and Apert syndromes.
J Craniofac Surg. 2003 Jan; 14(1):101-4; discussion 105-7.JC

Abstract

Crouzon and Apert syndromes have been reported to be associated with mutations in Fibroblast Growth Factor Receptor 2 (FGFR2) gene in various ethnic groups, but never in Southeast Asian subjects. Therefore, the authors conducted a study to characterize 11 Thai patients: four with Crouzon syndrome and seven with Apert syndrome. All cases are sporadic. Mean paternal and maternal ages were 38.7 and 28.6 years, respectively. Molecularly, all patients were found to have mutations in the FGFR2 gene. Three mutations (C278F, S347C, S351C) were detected in all Crouzon patients with two having S351C. The seven patients with Apert syndrome have either S252W or P253R mutation. The authors' findings that sporadic cases were associated with advanced paternal age and that they all had mutations in FGFR2 are consistent with previous reports. This is another observation supporting the causative role of FGFR2 mutations in Crouzon and Apert syndromes.

Authors+Show Affiliations

Chulalongkorn Craniofacial Center, Department of Pediatrics, Faculty of Medicine, Chulalongkorn University, Bangkok 10330, Thailand. vorasuk.s@chula.ac.thNo 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

12544231

Citation

Shotelersuk, Vorasuk, et al. "FGFR2 Mutations Among Thai Children With Crouzon and Apert Syndromes." The Journal of Craniofacial Surgery, vol. 14, no. 1, 2003, pp. 101-4; discussion 105-7.
Shotelersuk V, Mahatumarat C, Ittiwut C, et al. FGFR2 mutations among Thai children with Crouzon and Apert syndromes. J Craniofac Surg. 2003;14(1):101-4; discussion 105-7.
Shotelersuk, V., Mahatumarat, C., Ittiwut, C., Rojvachiranonda, N., Srivuthana, S., Wacharasindhu, S., & Tongkobpetch, S. (2003). FGFR2 mutations among Thai children with Crouzon and Apert syndromes. The Journal of Craniofacial Surgery, 14(1), 101-4; discussion 105-7.
Shotelersuk V, et al. FGFR2 Mutations Among Thai Children With Crouzon and Apert Syndromes. J Craniofac Surg. 2003;14(1):101-4; discussion 105-7. PubMed PMID: 12544231.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - FGFR2 mutations among Thai children with Crouzon and Apert syndromes. AU - Shotelersuk,Vorasuk, AU - Mahatumarat,Charan, AU - Ittiwut,Chupong, AU - Rojvachiranonda,Nond, AU - Srivuthana,Sumarlee, AU - Wacharasindhu,Suthipong, AU - Tongkobpetch,Siraprapa, PY - 2003/1/25/pubmed PY - 2003/5/7/medline PY - 2003/1/25/entrez SP - 101-4; discussion 105-7 JF - The Journal of craniofacial surgery JO - J Craniofac Surg VL - 14 IS - 1 N2 - Crouzon and Apert syndromes have been reported to be associated with mutations in Fibroblast Growth Factor Receptor 2 (FGFR2) gene in various ethnic groups, but never in Southeast Asian subjects. Therefore, the authors conducted a study to characterize 11 Thai patients: four with Crouzon syndrome and seven with Apert syndrome. All cases are sporadic. Mean paternal and maternal ages were 38.7 and 28.6 years, respectively. Molecularly, all patients were found to have mutations in the FGFR2 gene. Three mutations (C278F, S347C, S351C) were detected in all Crouzon patients with two having S351C. The seven patients with Apert syndrome have either S252W or P253R mutation. The authors' findings that sporadic cases were associated with advanced paternal age and that they all had mutations in FGFR2 are consistent with previous reports. This is another observation supporting the causative role of FGFR2 mutations in Crouzon and Apert syndromes. SN - 1049-2275 UR - https://www.unboundmedicine.com/medline/citation/12544231/FGFR2_mutations_among_Thai_children_with_Crouzon_and_Apert_syndromes_ L2 - https://doi.org/10.1097/00001665-200301000-00019 DB - PRIME DP - Unbound Medicine ER -