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Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses.
Am J Med Genet. 1998 Jul 07; 78(3):237-41.AJ

Abstract

Dominant mutations in three fibroblast growth factor receptor genes (FGFRs1-3) cause Crouzon, Jackson-Weiss, Pfeiffer, and Apert syndromes. In the present study, 50 Brazilian patients with these four syndromes (27 Apert, 17 Crouzon, 5 Pfeiffer, and 1 Jackson-Weiss patients) were screened for mutations in the FGFR1-3 genes. Except for one, all the Apert patients had either S252W (n = 16) or P253R (n = 10) mutations. The remaining Apert case is atypical with a mutation altering the splice site of FGFR2 exon IIIc. The Pfeiffer patients had mutations in one of the FGFR genes: three in FGFR2, one in FGFR1, and one in FGFR3. In contrast, only 8 of the 17 Crouzon patients studied had a mutation in either FGFR2 (n = 7) or FGFR3 locus (n = 1). Mutations in the FGFR2 locus account for most (93%) of our syndromic craniosynostotic cases, whereas 5% had mutations in the FGFR3 locus and only 2% had mutations in the FGFR1 gene. Except for one, all the other mutations were reported previously in craniosynostotic patients from other populations. Interestingly, the mutation C278F, previously described in Crouzon and Pfeiffer cases, was here identified in a familial case with Jackson-Weiss. Also, unexpectedly, a common mutation altering the splice site of the FGFR2 exon IIIc was found in one Apert and two Pfeiffer patients. In addition, we identified a new mutation (A337P) in the FGFR2 exon IIIc associated with Crouzon phenotype.

Authors+Show Affiliations

Departamento de Biologia, Instituto de Biociências, Universidade de São Paulo, Brazil. passos@usp.brNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

9677057

Citation

Passos-Bueno, M R., et al. "Description of a New Mutation and Characterization of FGFR1, FGFR2, and FGFR3 Mutations Among Brazilian Patients With Syndromic Craniosynostoses." American Journal of Medical Genetics, vol. 78, no. 3, 1998, pp. 237-41.
Passos-Bueno MR, Sertié AL, Richieri-Costa A, et al. Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. Am J Med Genet. 1998;78(3):237-41.
Passos-Bueno, M. R., Sertié, A. L., Richieri-Costa, A., Alonso, L. G., Zatz, M., Alonso, N., Brunoni, D., & Ribeiro, S. F. (1998). Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. American Journal of Medical Genetics, 78(3), 237-41.
Passos-Bueno MR, et al. Description of a New Mutation and Characterization of FGFR1, FGFR2, and FGFR3 Mutations Among Brazilian Patients With Syndromic Craniosynostoses. Am J Med Genet. 1998 Jul 7;78(3):237-41. PubMed PMID: 9677057.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. AU - Passos-Bueno,M R, AU - Sertié,A L, AU - Richieri-Costa,A, AU - Alonso,L G, AU - Zatz,M, AU - Alonso,N, AU - Brunoni,D, AU - Ribeiro,S F, PY - 1998/7/24/pubmed PY - 2000/6/20/medline PY - 1998/7/24/entrez SP - 237 EP - 41 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 78 IS - 3 N2 - Dominant mutations in three fibroblast growth factor receptor genes (FGFRs1-3) cause Crouzon, Jackson-Weiss, Pfeiffer, and Apert syndromes. In the present study, 50 Brazilian patients with these four syndromes (27 Apert, 17 Crouzon, 5 Pfeiffer, and 1 Jackson-Weiss patients) were screened for mutations in the FGFR1-3 genes. Except for one, all the Apert patients had either S252W (n = 16) or P253R (n = 10) mutations. The remaining Apert case is atypical with a mutation altering the splice site of FGFR2 exon IIIc. The Pfeiffer patients had mutations in one of the FGFR genes: three in FGFR2, one in FGFR1, and one in FGFR3. In contrast, only 8 of the 17 Crouzon patients studied had a mutation in either FGFR2 (n = 7) or FGFR3 locus (n = 1). Mutations in the FGFR2 locus account for most (93%) of our syndromic craniosynostotic cases, whereas 5% had mutations in the FGFR3 locus and only 2% had mutations in the FGFR1 gene. Except for one, all the other mutations were reported previously in craniosynostotic patients from other populations. Interestingly, the mutation C278F, previously described in Crouzon and Pfeiffer cases, was here identified in a familial case with Jackson-Weiss. Also, unexpectedly, a common mutation altering the splice site of the FGFR2 exon IIIc was found in one Apert and two Pfeiffer patients. In addition, we identified a new mutation (A337P) in the FGFR2 exon IIIc associated with Crouzon phenotype. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/9677057/Description_of_a_new_mutation_and_characterization_of_FGFR1_FGFR2_and_FGFR3_mutations_among_Brazilian_patients_with_syndromic_craniosynostoses_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1998&volume=78&issue=3&spage=237 DB - PRIME DP - Unbound Medicine ER -