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Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome.
Eur J Pediatr. 2009 Sep; 168(9):1135-9.EJ

Abstract

When normal development and growth of the calvarial sutures is disrupted, craniosynostosis (premature calvarial suture fusion) may result. Classical craniosynostosis syndromes are autosomal dominant traits and include Apert, Pfeiffer, Crouzon, Jackson-Weiss, and Saethre-Chotzen syndromes. In these conditions, there is premature fusion of skull bones leading to an abnormal head shape, ocular hypertelorism with proptosis, and midface hypoplasia. It is known that mutations in the fibroblast growth factor receptors 1, 2, and 3 cause craniosynostosis. We report on a child with a clinically diagnosed Pfeiffer syndrome that shows the missense point mutation Q289P in exon 8 of the FGFR2 gene. This is a mutation not previously described in the Pfeiffer syndrome but reported in the Crouzon, Jackson-Weiss, and Saethre-Chotzen syndromes. In this paper, we propose the concept that these disorders may represent one genetic condition with phenotypic variability.

Authors+Show Affiliations

Dipartimento Materno Infantile, Università di Palermo, via Cardinale Rampolla 1, Palermo 90142, Italy. piccionemaria@libero.itNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

19066959

Citation

Piccione, Maria, et al. "Q289P Mutation in the FGFR2 Gene: First Report in a Patient With Type 1 Pfeiffer Syndrome." European Journal of Pediatrics, vol. 168, no. 9, 2009, pp. 1135-9.
Piccione M, Antona V, Niceta M, et al. Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. Eur J Pediatr. 2009;168(9):1135-9.
Piccione, M., Antona, V., Niceta, M., Fabiano, C., Martines, M., Bianchi, A., & Corsello, G. (2009). Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. European Journal of Pediatrics, 168(9), 1135-9. https://doi.org/10.1007/s00431-008-0884-x
Piccione M, et al. Q289P Mutation in the FGFR2 Gene: First Report in a Patient With Type 1 Pfeiffer Syndrome. Eur J Pediatr. 2009;168(9):1135-9. PubMed PMID: 19066959.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Q289P mutation in the FGFR2 gene: first report in a patient with type 1 Pfeiffer syndrome. AU - Piccione,Maria, AU - Antona,Vincenzo, AU - Niceta,Marcello, AU - Fabiano,Carmelo, AU - Martines,Manuela, AU - Bianchi,Alberto, AU - Corsello,Giovanni, Y1 - 2008/12/06/ PY - 2008/09/10/received PY - 2008/11/19/accepted PY - 2008/12/11/pubmed PY - 2010/2/2/medline PY - 2008/12/11/entrez SP - 1135 EP - 9 JF - European journal of pediatrics JO - Eur J Pediatr VL - 168 IS - 9 N2 - When normal development and growth of the calvarial sutures is disrupted, craniosynostosis (premature calvarial suture fusion) may result. Classical craniosynostosis syndromes are autosomal dominant traits and include Apert, Pfeiffer, Crouzon, Jackson-Weiss, and Saethre-Chotzen syndromes. In these conditions, there is premature fusion of skull bones leading to an abnormal head shape, ocular hypertelorism with proptosis, and midface hypoplasia. It is known that mutations in the fibroblast growth factor receptors 1, 2, and 3 cause craniosynostosis. We report on a child with a clinically diagnosed Pfeiffer syndrome that shows the missense point mutation Q289P in exon 8 of the FGFR2 gene. This is a mutation not previously described in the Pfeiffer syndrome but reported in the Crouzon, Jackson-Weiss, and Saethre-Chotzen syndromes. In this paper, we propose the concept that these disorders may represent one genetic condition with phenotypic variability. SN - 1432-1076 UR - https://www.unboundmedicine.com/medline/citation/19066959/Q289P_mutation_in_the_FGFR2_gene:_first_report_in_a_patient_with_type_1_Pfeiffer_syndrome_ L2 - https://dx.doi.org/10.1007/s00431-008-0884-x DB - PRIME DP - Unbound Medicine ER -