A comprehensive screen of genes implicated in craniosynostosis

Annals of the Royal College of Surgeons of England

Volumn 85, Issue 6, 2003, Pages 371-377

  Johnson, David ^a,b  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b RADCLIFFE INFIRMARY   (United Kingdom)

Author keywords

Craniosynostosis; Fibroblast growth factor receptor; Mutation; Saethre Chotzen syndrome; TWIST

Indexed keywords

FIBROBLAST GROWTH FACTOR RECEPTOR 1; FIBROBLAST GROWTH FACTOR RECEPTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR 3; PROTEIN; TRANSCRIPTION FACTOR TWIST; UNCLASSIFIED DRUG;

ACROCEPHALOSYNDACTYLY; BIOGENESIS; CHILD; COHORT ANALYSIS; CONFERENCE PAPER; CRANIAL SUTURE; CRANIOFACIAL SYNOSTOSIS; GENE DELETION; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC SCREENING; GENOTYPE ENVIRONMENT INTERACTION; HUMAN;

CRANIOSYNOSTOSES; HUMANS; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PROTEIN-TYROSINE KINASES; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; TRANSCRIPTION FACTORS; TWIST TRANSCRIPTION FACTOR;

EID: 0242636226     PISSN: 00358843     EISSN: None     Source Type: Journal    
DOI: 10.1308/003588403322520708     Document Type: Conference Paper

References (15)

1. Cohen Jr MM. Syndromes with craniosynostosis. In: Cohen Jr MM, McLean RE. (eds) Craniosynostosis: Diagnosis, Evaluation, and Management. New York: Oxford University Press, 2000; 309-441.
2. Wilkie AOM. Craniosynostosis: Genes and mechanisms. Hum Mol Genet 1997; 6: 1647-56.
3. El Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D et al. Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet 1997; 15: 42-6.
4. Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, Ortiz De Luna RL et al Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre Chotzen syndrome. Nat Genet 1997; 15: 36-41.
5. Rose CSP, Malcolm S. A TWIST in development. Trends Genet 1997; 13: 384-7.
6. Johnson D, Horsley SW, Moloney DM, Oldridge M, Twigg SRF, Walsh S et al. A comprehensive screen for TWIST mutations in patients with craniosynostosis identifies a new microdeletion syndrome of chromosome band 7p21.1. Am J Hum Genet 1998; 63: 1282-93.
7. Johnson D, Wilkie AOM, Wall SA. A comprehensive screen for TWIST mutations in Saethre-Chotzen syndrome identifies a new microdeletion disorder of chromosome 7. In: Craniofacial Surgery 8: Proceedings of the VIII International Congress of the International Society of Craniofacial Surgery, 2000; 53-6.
8. Mach H, Volkin DB, Burke CJ, Middaugh CR, Linhardt RJ, Fromm JR et al. Nature of the interaction of heparin with fibroblast growth factor. Biochemistry 1993; 32: 5480-9.
9. Kan S, Elanko N, Johnson D, Comejo-Roldan L, Cook J, Reich EW et al. Genomic screening of fibroblast growth factor receptor 2 reveals a wide spectrum of mutations in patients with syndromic craniosynostosis. Am J Hum Genet 2001; 70: 472-86.
10. Johnson D, Wall SA, Mann S, Wilkie AOM. A novel mutation, Ala315Ser, in FGFR2: A gene-environment interaction leading to craniosynostosis? Eur J Hum Genet 2000; 8: 571-7.
11. Higginbottom MC, Jones KL, James HE. Intrauterine constraint and craniosynostosis. Neurosurgery 1980; 6: 39-44.
12. Koskinen-Moffett L, Moffett B.C. Sutures and intrauterine deformation. In: Persing JA, Edgerton MT, Jane JA. (eds) Scientific Foundations and Surgical Treatment of Craniosynostosis. Baltimore, MD: Williams and Wilkins, 1989; 96-106.
13. Jonhson D, Iseki S, Wilkie AOM, Morriss-Kay GM. Expression patterns of Twist and Fgfr1, -2 and -3 in the developing mouse coronal suture suggest a key role for Twist in suture initiation and biogenesis. Mech Dev 2000; 91: 341-5.
14. Iseki S, Wilkie AOM, Morriss-Kay GM. Fgfr1 and Fgfr2 have distinct differentiation- and proliferation-related roles in the developing mouse skull vault. Development 1999; 126: 5611-20.
15. Renier D, El Ghouzzi V, Bonaventure J, Le Merrer M, Lajeunie E. Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: Clinical spectrum, prevalence, and surgical outcome. J Neurosurg 2000; 92: 631-6.