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Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly.
J Med Genet. 1998 Aug; 35(8):677-9.JM

Abstract

Apert syndrome, characterised by craniosynostosis, craniofacial anomalies, and symmetrical syndactyly of the digits (cutaneous and bony fusion), has been associated with two canonical mutations in the FGFR2 gene (S252W, P253R) in the great majority of cases. Since these two alterations have been observed exclusively among these patients, it has been suggested that the S252W and P253R changes may play an important role in the occurrence of syndactyly. In order to verify whether the mutations S252W and P253R could also cause a milder phenotype, without involvement of the limbs, we have screened 22 patients with clinical characteristics compatible with Crouzon or Pfeiffer syndrome for these two particular changes. Surprisingly, we identified a Pfeiffer-like patient with the mutation S252W, and therefore we have shown for the first time the occurrence of one of the canonical Apert mutations without severe abnormalities of the upper and lower extremities.

Authors+Show Affiliations

Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, SP, Brazil.No 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

9719378

Citation

Passos-Bueno, M R., et al. "Presence of the Apert Canonical S252W FGFR2 Mutation in a Patient Without Severe Syndactyly." Journal of Medical Genetics, vol. 35, no. 8, 1998, pp. 677-9.
Passos-Bueno MR, Richieri-Costa A, Sertié AL, et al. Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. J Med Genet. 1998;35(8):677-9.
Passos-Bueno, M. R., Richieri-Costa, A., Sertié, A. L., & Kneppers, A. (1998). Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. Journal of Medical Genetics, 35(8), 677-9.
Passos-Bueno MR, et al. Presence of the Apert Canonical S252W FGFR2 Mutation in a Patient Without Severe Syndactyly. J Med Genet. 1998;35(8):677-9. PubMed PMID: 9719378.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. AU - Passos-Bueno,M R, AU - Richieri-Costa,A, AU - Sertié,A L, AU - Kneppers,A, PY - 1998/8/27/pubmed PY - 1998/8/27/medline PY - 1998/8/27/entrez SP - 677 EP - 9 JF - Journal of medical genetics JO - J Med Genet VL - 35 IS - 8 N2 - Apert syndrome, characterised by craniosynostosis, craniofacial anomalies, and symmetrical syndactyly of the digits (cutaneous and bony fusion), has been associated with two canonical mutations in the FGFR2 gene (S252W, P253R) in the great majority of cases. Since these two alterations have been observed exclusively among these patients, it has been suggested that the S252W and P253R changes may play an important role in the occurrence of syndactyly. In order to verify whether the mutations S252W and P253R could also cause a milder phenotype, without involvement of the limbs, we have screened 22 patients with clinical characteristics compatible with Crouzon or Pfeiffer syndrome for these two particular changes. Surprisingly, we identified a Pfeiffer-like patient with the mutation S252W, and therefore we have shown for the first time the occurrence of one of the canonical Apert mutations without severe abnormalities of the upper and lower extremities. SN - 0022-2593 UR - https://www.unboundmedicine.com/medline/citation/9719378/Presence_of_the_Apert_canonical_S252W_FGFR2_mutation_in_a_patient_without_severe_syndactyly_ L2 - https://jmg.bmj.com/lookup/pmidlookup?view=long&pmid=9719378 DB - PRIME DP - Unbound Medicine ER -