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Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene.
Genet Couns. 2005; 16(4):403-6.GC

Abstract

The Apert syndrome is characterized by craniosynostosis and syndactyly of hands and feet. Although most cases are sporadic, an autosomal dominant mode of inheritance is well documented. Two mutations in the FGFR2 gene (Ser252Trp and Pro253Arg) account for most of the cases. We report a patient with a rare form of Apert syndrome with polydactyly. The proposita has turribrachycephaly. complete syndactyly of 2nd to 5th digits ("mitten hands" and cutaneous fusion of all toes). The X-rays revealed craniosynostosis of the coronal suture and preaxial polydactyly of hands and feet with distal bony fusion. Molecular analysis found a C755G transversion (Ser252Trp) in the FGFR2 gene. Only eight patients with Apert syndrome and preaxial polydactyly have been reported and this is the first case in which molecular diagnosis is available. On the basis of the molecular findings in this patient, polydactyly should be considered part of the spectrum of abnormalities in the Apert syndrome. This assertion would establish the need for a new molecular classification of the acrocephalopolysyndactylies.

Authors+Show Affiliations

División de Genética, CIBO-IMSS, Guadalajara, México.No affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

16440883

Citation

Mantilla-Capacho, J M., et al. "Apert Syndrome With Preaxial Polydactyly Showing the Typical Mutation Ser252Trp in the FGFR2 Gene." Genetic Counseling (Geneva, Switzerland), vol. 16, no. 4, 2005, pp. 403-6.
Mantilla-Capacho JM, Arnaud L, Díaz-Rodriguez M, et al. Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. Genet Couns. 2005;16(4):403-6.
Mantilla-Capacho, J. M., Arnaud, L., Díaz-Rodriguez, M., & Barros-Núñez, P. (2005). Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. Genetic Counseling (Geneva, Switzerland), 16(4), 403-6.
Mantilla-Capacho JM, et al. Apert Syndrome With Preaxial Polydactyly Showing the Typical Mutation Ser252Trp in the FGFR2 Gene. Genet Couns. 2005;16(4):403-6. PubMed PMID: 16440883.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Apert syndrome with preaxial polydactyly showing the typical mutation Ser252Trp in the FGFR2 gene. AU - Mantilla-Capacho,J M, AU - Arnaud,L, AU - Díaz-Rodriguez,M, AU - Barros-Núñez,P, PY - 2006/1/31/pubmed PY - 2006/4/6/medline PY - 2006/1/31/entrez SP - 403 EP - 6 JF - Genetic counseling (Geneva, Switzerland) JO - Genet. Couns. VL - 16 IS - 4 N2 - The Apert syndrome is characterized by craniosynostosis and syndactyly of hands and feet. Although most cases are sporadic, an autosomal dominant mode of inheritance is well documented. Two mutations in the FGFR2 gene (Ser252Trp and Pro253Arg) account for most of the cases. We report a patient with a rare form of Apert syndrome with polydactyly. The proposita has turribrachycephaly. complete syndactyly of 2nd to 5th digits ("mitten hands" and cutaneous fusion of all toes). The X-rays revealed craniosynostosis of the coronal suture and preaxial polydactyly of hands and feet with distal bony fusion. Molecular analysis found a C755G transversion (Ser252Trp) in the FGFR2 gene. Only eight patients with Apert syndrome and preaxial polydactyly have been reported and this is the first case in which molecular diagnosis is available. On the basis of the molecular findings in this patient, polydactyly should be considered part of the spectrum of abnormalities in the Apert syndrome. This assertion would establish the need for a new molecular classification of the acrocephalopolysyndactylies. SN - 1015-8146 UR - https://www.unboundmedicine.com/medline/citation/16440883/Apert_syndrome_with_preaxial_polydactyly_showing_the_typical_mutation_Ser252Trp_in_the_FGFR2_gene_ L2 - http://www.diseaseinfosearch.org/result/544 DB - PRIME DP - Unbound Medicine ER -