Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain

Journal of Medical Genetics

Volumn 42, Issue 8, 2005, Pages 656-662

  McGillivray, G ^a   Savarirayan, R ^a,b,c   Cox, T C ^d,e,f   Stojkoski, C ^d   McNeil, R ^b   Bankier, A ^a,f   Bateman, J F ^b,c   Roscioli, T ^g   Gardner, R J M ^a   Lamandé, Shireen R ^a,b,c  

^a ROYAL CHILDREN'S HOSPITAL   (Australia)

^b MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d UNIVERSITY OF ADELAIDE   (Australia)

^e Australian Craniofacial Institute   (Australia)

^f MONASH UNIVERSITY   (Australia)

^g PRINCE OF WALES HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 2; PROTEIN TYROSINE KINASE;

AMINO ACID SUBSTITUTION; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; DISEASE ASSOCIATION; DISEASE SEVERITY; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENETIC SCREENING; HUMAN; HYPERTELORISM; INTELLECTUAL IMPAIRMENT; MACROCEPHALY; MALE; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DOMAIN; SCAPHOCEPHALIA; SEX DIFFERENCE; SYNDACTYLY;

ABNORMALITIES, MULTIPLE; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC SCREENING; HUMANS; MALE; MENTAL RETARDATION; MODELS, MOLECULAR; MUTATION; PEDIGREE; PROTEIN STRUCTURE, TERTIARY; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; SKULL; SYNDROME;

EID: 23744461534     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2004.027888     Document Type: Article

References (24)

1. Muenke M, Wilkie AO. Craniosynostosis syndromes. In: Beaudet AC, Kinzler K, Scriver C, et al, eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001:6117-46.
2. Cohen MM, MacLean RE. Craniosynostosis: diagnosis, evaluation, and management, 2nd ed. New York: Oxford University Press, 2000.
3. Anderson FM, Geiger L. Craniosynostosis: a survey of 204 cases. J Neurosurg 1965;22:229-40.
4. Hunter AG, Rudd NL. Craniosynostosis. I. Sagittal synostosis: its genetics and associated clinical findings in 214 patients who lacked involvement of the coronal suture(s). Teratology 1976;14:185-93.
5. Lajeunie E, Le Merrer M, Bonaiti-Pellie C, Marchac D, Renier D. Genetic study of scaphocephaly. Am J Med Genet 1996;62(3):282-5.
6. Shillito J, Matson DD. Craniosynostosis: a review of 519 surgical patients. Pediatrics 1968;41:829-53.
7. Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, Robin NH, Nwokoro N, Mulvihill JJ, Losken HW, Mulliken JB, Guttmacher AE, Wilroy RS, Clarke LA, Hollway G, Ades LC, Haan EA, Mulley JC, Cohen MM, Bellus GA, Francomano CA, Moloney DM, Wall SA, Wilkie AO, et al. A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 1997;60:555-64.
8. Mulliken JB, Gripp KW, Stolle CA, Steinberger D, Muller U. Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis). Plast Reconstr Surg 2004;113:1899.
9. Kan SH, Elanko N, Johnson D, Cornejo-Roldan L, Cook J, Reich EW, Tomkins S, Verloes A, Twigg SR, Rannan-Eliya S, McDonald-McGinn DM, Zackai EH, Wall SA, Muenke M, Wilkie AO. Genomic screening of fibroblast growth-factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet 2002;70:472-86.
10. Muenke M, Schell U, Hehr A, Robin NH, Losken HW, Schinzel A, Pulleyn LJ, Rutland P, Reardon W, Malcolm S, et al. A common mutation in the fibroblast growth factor receptor 1 gene in Pfeiffer syndrome. Nat Genet 1994;8:269-74.
11. Passos-Bueno MR, Wilcox WR, Jabs EW, Sertie AL, Alonso LG, Kitoh H. Clinical spectrum of fibroblast growth factor receptor mutations. Hum Mutat 1999;14:115-25.
12. Ornitz DM, Marie PJ. FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev 2002;16:1446-65.
13. Nellhaus G. Head circumference from birth to eighteen years. Practical composite international and interracial graphs. Pediatrics 1968;41:106-14.
14. Feingold M, Bossert WH. Normal values for selected physical parameters: an aid to syndrome delineation. Birth Defects Orig Artic Ser 1974;10:1-16.
15. Jabs EW, Muller U, Li X, Ma L, Luo W, Haworth IS, Klisak I, Sparkes R, Warman ML, Mulliken JB, et al. A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 1993;75:443-50.
16. Mavrogiannis IA, Antonopoulou I, Baxova A, Kutilek S, Kim CA, Sugayama SM, Salamanca A, Wall SA, Morriss-Kay GM, Wilkie AO. Haploinsufficiency of the human homeobox gene ALX4 causes skull ossification defects. Nat Genet 2001;27:17-8.
17. Mohammadi M, Schlessinger J, Hubbard SR. Structure of the FGF receptor tyrosine kinase domain reveals a novel autoinhibitory mechanism. Cell 1996;86:577-87.
18. Sali A, Blundell TL. Comparative protein modelling by satisfaction of spatial restraints. J Mol Biol 1993;234:779-815.
19. Linge JP, Williams MA, Spronk CA, Bonvin AM, Nilges M. Refinement of protein structures in explicit solvent. Proteins 2003;50:496-506.
20. Kale L, Skeel R, Bhandarkar M, Brunner R, Gursoy A, Krawetz N, Phillips J, Shinozaki A, Varadarajan L, Schulten L. NAMD2: greater scalability for parallel molecular dynamics. J Comput Phys 1999;151:283-312.
21. Hubbard SR. Crystal structure of the activated insulin receptor tyrosine kinase in complex with peptide substrate and ATP analog. Embo J 1997;16:5572-81.
22. Kraulis PJ. MOLSCRIPT: a program to produce both detailed and schematic plots of protein structures. J Appl Crystallogr 1991;24:946-50.
23. Bellus GA, Spector EB, Speiser PW, Weaver CA, Garber AT, Bryke CR, Israel J, Rosengren SS, Webster MK, Donoghue DJ, Francomano CA. Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype. Am J Hum Genet 2000;67:1411-21.
24. Raffioni S, Zhu YZ, Bradshaw RA, Thompson LM. Effect of transmembrane and kinase domain mutations on fibroblast growth factor receptor 3 chimera signaling in PC12 cells. A model for the control of receptor tyrosine kinase activation. J Biol Chem 1998;273:35250-9.