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FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing.
Am J Hum Genet. 1996 Mar; 58(3):491-8.AJ

Abstract

Fibroblast growth factor receptor 2 (FGFR2) mutations have been associated with the craniosynostotic conditions Crouzon, Jackson-Weiss, and Pfeiffer syndromes. Previously, mutations were described in the exons IIIa and IIIc, which form the extracellular, third immunoglobulin-like domain (IgIII) and adjacent linker regions, both of which are normally involved in ligand binding. For all three conditions, mutations were found in exon IIIc. Only in Crouzon syndrome were mutations identified in exon IIIa. In this study, 39 cases with one of these three conditions were screened for exon IIIa or IIIc mutations. Eleven mutations are reported in 17 unrelated cases. Mutations in exon IIIa are identified for not only Crouzon but also Jackson-Weiss and Pfeiffer syndromes. Four mutations in either exon IIIa or exon IIIc reported only in Crouzon syndrome are present also in one of the other two syndromes. Two insertions, one in exon IIIa in a Crouzon syndrome patient and the other in exon IIIc in a Pfeiffer syndrome patient, were observed. The latter mutation has the same alternative RNA splicing effect as a reported synonymous mutation for Crouzon syndrome. A missense mutation was detected in one Pfeiffer syndrome family in which two members had craniosynostosis without limb anomalies. The inter- and intrafamilial variability in expression of FGFR2 mutations suggests that these three syndromes, presumed to be clinically distinct, are instead representative of a spectrum of related craniosynostotic and digital disorders.

Authors+Show Affiliations

Center for Medical Genetics, Johns Hopkins Hospital, Baltimore, MD 21287-3914, USA.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, P.H.S.

Language

eng

PubMed ID

8644708

Citation

Meyers, G A., et al. "FGFR2 Exon IIIa and IIIc Mutations in Crouzon, Jackson-Weiss, and Pfeiffer Syndromes: Evidence for Missense Changes, Insertions, and a Deletion Due to Alternative RNA Splicing." American Journal of Human Genetics, vol. 58, no. 3, 1996, pp. 491-8.
Meyers GA, Day D, Goldberg R, et al. FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. Am J Hum Genet. 1996;58(3):491-8.
Meyers, G. A., Day, D., Goldberg, R., Daentl, D. L., Przylepa, K. A., Abrams, L. J., Graham, J. M., Feingold, M., Moeschler, J. B., Rawnsley, E., Scott, A. F., & Jabs, E. W. (1996). FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. American Journal of Human Genetics, 58(3), 491-8.
Meyers GA, et al. FGFR2 Exon IIIa and IIIc Mutations in Crouzon, Jackson-Weiss, and Pfeiffer Syndromes: Evidence for Missense Changes, Insertions, and a Deletion Due to Alternative RNA Splicing. Am J Hum Genet. 1996;58(3):491-8. PubMed PMID: 8644708.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - FGFR2 exon IIIa and IIIc mutations in Crouzon, Jackson-Weiss, and Pfeiffer syndromes: evidence for missense changes, insertions, and a deletion due to alternative RNA splicing. AU - Meyers,G A, AU - Day,D, AU - Goldberg,R, AU - Daentl,D L, AU - Przylepa,K A, AU - Abrams,L J, AU - Graham,J M,Jr AU - Feingold,M, AU - Moeschler,J B, AU - Rawnsley,E, AU - Scott,A F, AU - Jabs,E W, PY - 1996/3/1/pubmed PY - 2001/3/28/medline PY - 1996/3/1/entrez SP - 491 EP - 8 JF - American journal of human genetics JO - Am J Hum Genet VL - 58 IS - 3 N2 - Fibroblast growth factor receptor 2 (FGFR2) mutations have been associated with the craniosynostotic conditions Crouzon, Jackson-Weiss, and Pfeiffer syndromes. Previously, mutations were described in the exons IIIa and IIIc, which form the extracellular, third immunoglobulin-like domain (IgIII) and adjacent linker regions, both of which are normally involved in ligand binding. For all three conditions, mutations were found in exon IIIc. Only in Crouzon syndrome were mutations identified in exon IIIa. In this study, 39 cases with one of these three conditions were screened for exon IIIa or IIIc mutations. Eleven mutations are reported in 17 unrelated cases. Mutations in exon IIIa are identified for not only Crouzon but also Jackson-Weiss and Pfeiffer syndromes. Four mutations in either exon IIIa or exon IIIc reported only in Crouzon syndrome are present also in one of the other two syndromes. Two insertions, one in exon IIIa in a Crouzon syndrome patient and the other in exon IIIc in a Pfeiffer syndrome patient, were observed. The latter mutation has the same alternative RNA splicing effect as a reported synonymous mutation for Crouzon syndrome. A missense mutation was detected in one Pfeiffer syndrome family in which two members had craniosynostosis without limb anomalies. The inter- and intrafamilial variability in expression of FGFR2 mutations suggests that these three syndromes, presumed to be clinically distinct, are instead representative of a spectrum of related craniosynostotic and digital disorders. SN - 0002-9297 UR - https://www.unboundmedicine.com/medline/citation/8644708/FGFR2_exon_IIIa_and_IIIc_mutations_in_Crouzon_Jackson_Weiss_and_Pfeiffer_syndromes:_evidence_for_missense_changes_insertions_and_a_deletion_due_to_alternative_RNA_splicing_ L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/8644708/ DB - PRIME DP - Unbound Medicine ER -