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Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses).
Cytogenet Cell Genet. 2000; 91(1-4):134-7.CC

Abstract

A cohort of 36 unrelated German patients with craniosynostosis syndromes of the Crouzon and Pfeiffer type were analyzed for FGFR mutations. Mutations in FGFR2 were identified in 25 Crouzon and 5 Pfeiffer syndrome patients, whereas no sequence alterations were found in the remaining patients, even after screening of the relevant parts of FGFR1, FGFR3, and TWIST. Mutations in FGFR2 clustered at two critical cysteine residues, 278 and 342, which were involved in 18 of 30 cases (60%). These two mutational hot spots, therefore, are prime targets for an efficient mutation-screening strategy. The spectrum of mutations overlapped the two syndromes and thus reflected the phenotypic similarities observed in both patient groups. In 21 families, the origin of the mutation could be traced by analyzing parents and relatives. Eleven mutations arose de novo, indicating a high mutation rate for FGFR2. In the 10 familial cases, the clinical presentation varied considerably within the pedigree, but both syndromes "bred true," i.e., a Pfeiffer syndrome phenotype was never observed in a Crouzon syndrome family and vice versa.

Authors+Show Affiliations

Department of Human Genetics, University of Würzburg , Germany. wkress@biozentrum.uni-wuerzburg.deNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

11173845

Citation

Kress, W, et al. "Clustering of FGFR2 Gene Mutations Inpatients With Pfeiffer and Crouzon Syndromes (FGFR2-associated Craniosynostoses)." Cytogenetics and Cell Genetics, vol. 91, no. 1-4, 2000, pp. 134-7.
Kress W, Collmann H, Büsse M, et al. Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). Cytogenet Cell Genet. 2000;91(1-4):134-7.
Kress, W., Collmann, H., Büsse, M., Halliger-Keller, B., & Mueller, C. R. (2000). Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). Cytogenetics and Cell Genetics, 91(1-4), 134-7.
Kress W, et al. Clustering of FGFR2 Gene Mutations Inpatients With Pfeiffer and Crouzon Syndromes (FGFR2-associated Craniosynostoses). Cytogenet Cell Genet. 2000;91(1-4):134-7. PubMed PMID: 11173845.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Clustering of FGFR2 gene mutations inpatients with Pfeiffer and Crouzon syndromes (FGFR2-associated craniosynostoses). AU - Kress,W, AU - Collmann,H, AU - Büsse,M, AU - Halliger-Keller,B, AU - Mueller,C R, PY - 2001/2/15/pubmed PY - 2001/4/3/medline PY - 2001/2/15/entrez SP - 134 EP - 7 JF - Cytogenetics and cell genetics JO - Cytogenet Cell Genet VL - 91 IS - 1-4 N2 - A cohort of 36 unrelated German patients with craniosynostosis syndromes of the Crouzon and Pfeiffer type were analyzed for FGFR mutations. Mutations in FGFR2 were identified in 25 Crouzon and 5 Pfeiffer syndrome patients, whereas no sequence alterations were found in the remaining patients, even after screening of the relevant parts of FGFR1, FGFR3, and TWIST. Mutations in FGFR2 clustered at two critical cysteine residues, 278 and 342, which were involved in 18 of 30 cases (60%). These two mutational hot spots, therefore, are prime targets for an efficient mutation-screening strategy. The spectrum of mutations overlapped the two syndromes and thus reflected the phenotypic similarities observed in both patient groups. In 21 families, the origin of the mutation could be traced by analyzing parents and relatives. Eleven mutations arose de novo, indicating a high mutation rate for FGFR2. In the 10 familial cases, the clinical presentation varied considerably within the pedigree, but both syndromes "bred true," i.e., a Pfeiffer syndrome phenotype was never observed in a Crouzon syndrome family and vice versa. SN - 0301-0171 UR - https://www.unboundmedicine.com/medline/citation/11173845/Clustering_of_FGFR2_gene_mutations_inpatients_with_Pfeiffer_and_Crouzon_syndromes__FGFR2_associated_craniosynostoses__ DB - PRIME DP - Unbound Medicine ER -