Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family

Journal of Medical Genetics

Volumn 34, Issue 8, 1997, Pages 683-684

  Golla, Astrid ^a   Lichtner, Peter ^a   Von Gernet, Steven ^b   Winterpacht, Andreas ^c   Fairley, Jeffrey ^b   Murken, Jan ^a   Schuffenhauer, Simone ^a  

^a UNIVERSITY OF MUNICH   (Germany)

^b Nymphenburger Praxis für Plastische and Ästhetische Chirurgie   (Germany)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

Author keywords

Craniosynostosis; FGFR3; Saethre Chotzen syndrome

Indexed keywords

DNA; FIBROBLAST GROWTH FACTOR RECEPTOR;

ARTICLE; AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 7P; CLINICAL ARTICLE; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; DNA POLYMORPHISM; FEMALE; GENE EXPRESSION; GENE FREQUENCY; GENE LOCUS; GENE MUTATION; GENETIC HETEROGENEITY; GENETIC LINKAGE; GERMANY; HUMAN; MALE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; TURKEY (REPUBLIC);

EID: 0030837389     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.34.8.683     Document Type: Article

References (14)

1. Schell U, Hehr A, Feldman GJ, et al. Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet 1995;4:323-8.
2. Muenke M, Schell U, Hehr A, et al. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet 1994;8:269-74.
3. Jabs EW, Li X, Scott AF, et al. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet 1994;8:98-103.
4. Reardon W, Winter RM, Rutland P, Pulleyn LJ, Jones BM, Malcolm S. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat Genet 1994;8:98-103.
5. Wilkie AOM, Slaney SF, Oldridge M, et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat Genet 1995;9:165-72.
6. Lajeunie E, Ma HW, Bonaventure J, Munnich A, Le Merrer M. FGFR2 mutations in Pfeiffer syndrome. Nat Genet 1995;9:108.
7. Rutland P, Pulleyn LJ, Reardon W, et al. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome phenotypes. Nat Genet 1995;9:173-6.
8. Bellus GA, Gaudenz K, Zackai EH, et al. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat Genet 1996;14:174-6.
9. Shiang A, Thompson L, Zhu YZ, et al. Mutations in the transmembrane domain of FGFR3 cause the most common genetic form of dwarfism, achondroplasia. Cell 1994;78:335-42.
10. Bellus GA, McIntosh I, Smith EA, et al. A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia. Nat Genet 1995;10:357-9.
11. Tavormina PL, Shiang R, Thompson LM, et al. Thanatophoric dysplasia (types I and II) caused by distinct mutations in the fibroblast growth factor receptor 3. Nat Genet 1995;9:321-8.
12. Meyers GA, Orlow SJ, Munro IR, Przylepa KA, Jabs EW. Fibroblast growth factor receptor 3 (FGFR3) transmernbrane mutation in Crouzon syndrome with acanthosis nigricans. Nat Genet 1995;11:462-4.
13. von Gernet S, Schuffenhauer S, Golla A, et al. Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p. Am J Med Genet 1996;63:177-84.
14. Altschul SF, Gish W, Miller W, Myers EW, Lipman D. Basic local alignment search tool. J Mol Biol 1990;215:403-10.