Craniosynostosis

European Journal of Human Genetics

Volumn 19, Issue 4, 2011, Pages 369-376

  Johnson, David ^a   Wilkie, Andrew O M ^a,b  

^a JOHN RADCLIFFE HOSPITAL   (United Kingdom)

^b UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

craniosynostosis; FGFR; TWIST

Indexed keywords

EPHRIN B1; FIBROBLAST GROWTH FACTOR RECEPTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR 3;

ACANTHOSIS NIGRICANS; ACROCEPHALOSYNDACTYLY; ARTICLE; CHILD; CHROMOSOME ABERRATION; CLINICAL ASSESSMENT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; CRANIOFACIAL SYNOSTOSIS; CROSS-SECTIONAL STUDY; CROUZON SYNDROME; DISEASE PREDISPOSITION; ELECTIVE SURGERY; ENVIRONMENTAL FACTOR; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; HUMAN; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; RISK ASSESSMENT; THREE DIMENSIONAL IMAGING;

CHILD; CHROMOSOME ABERRATIONS; CRANIAL SUTURES; CRANIOSYNOSTOSES; EPHRIN-B1; FEMALE; GENETIC COUNSELING; HUMANS; MALE; MUTATION; NUCLEAR PROTEINS; PRENATAL DIAGNOSIS; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 1; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RISK ASSESSMENT; TOMOGRAPHY SCANNERS, X-RAY COMPUTED; TWIST TRANSCRIPTION FACTOR;

EID: 79952744453     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.235     Document Type: Article

References (59)

1. Lajeunie E, Le Merrer M, Bonäti-Pellie C, Marchac D, Renier D: Genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet 1995; 55: 500-504
2. Boulet SL, Rasmussen SA, Honein MA: A population-based study of craniosynostosis in metropolitan Atlanta, 1989-2003. Am J Med Genet 2008; 146A: 984-991
3. Lajeunie E, Crimmins DW, Arnaud E, Renier D: Genetic considerations in nonsyndromic midline craniosynostoses: a study of twins and their families. J Neurosurg (Pediatrics 4) 2005; 103: 353-356 (Pubitemid 44954890)
4. Sanchez-Lara PA, Carmichael SL, Graham Jr JM et al: Fetal constraint as a potential risk factor for craniosynostosis. Am J Med Genet 2010; 152A: 394-400
5. Haas LL: Roentgenological skull measurements and their diagnostic applications. Am J Roentgenol Radium Ther Nucl Med 1952; 67: 197-209
6. Kirmi O, Lo SJ, Johnson D, Anslow P: Craniosynostosis: a radiological and surgical perspective. Semin Ultrasound CT MR 2009; 30: 492-512
7. Wilkie AOM, Byren JC, Hurst JA et al: Prevalence and complications of single gene and chromosomal disorders in craniosynostosis. Pediatrics 2010; 126: e391-e400
8. Merrill AE, Bochukova EG, Brugger SM et al: Cell mixing at a neural crest-mesoderm boundary and deficient ephrin-Eph signaling in the pathogenesis of craniosynostosis. Hum Mol Genet 2006; 15: 1319-1328
9. Jabs EW, Mü ller U, Li X et al: A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis. Cell 1993; 75: 443-450 (Pubitemid 23335070)
10. Kariminejad A, Kariminejad R, Tzschach A et al: Craniosynostosis in a patient with 2q37.3 deletion 5q34 duplication: association of extra copy of MSX2 with craniosynostosis. Am J Med Genet A 2009; 149A: 1544-1549
11. 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: 5611-5620 (Pubitemid 30035010)
12. Holmes G, Rothschild G, Roy UB, Deng C-X, Mansukhani A, Basilico C: Early onset of craniosynostosis in an Apert mouse model reveals critical features of this pathology. Dev Biol 2009; 328: 273-284
13. Slaney SF, Oldridge M, Hurst JA et al: Differential effects of FGFR2 mutations on syndactyly and cleft palate in Apert syndrome. Am J Hum Genet 1996; 58: 923-932 (Pubitemid 26115163)
14. Ibrahimi OA, Chiu ES, McCarthy JG, Mohammadi M: Understanding the molecular basis of Apert syndrome. Plast Reconstr Surg 2005; 115: 264-270 (Pubitemid 40187826)
15. Goriely A, McVean GAT, van Pelt AMM et al: Gain-of-function amino acid substitutions drive positive selection of FGFR2 mutations in human spermatogonia. Proc Natl Acad Sci USA 2005; 102: 6051-6056 (Pubitemid 40594253)
16. Goriely A, Hansen RMS, Taylor IB et al: Activating mutations in FGFR3 and HRAS reveal a shared genetic origin for congenital disorders and testicular tumors. Nat Genet 2009; 41: 1247-1252
17. Lajeunie E, Heuertz S, El Ghouzzi V et al: Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome. Eur J Hum Genet 2006; 14: 289-298
18. Hoefkens MF, Vermeij-Keers C, Vaandrager JM: Crouzon syndrome: phenotypic signs and symptoms of the postnatally expressed subtype. J Craniofac Surg 2004; 15: 233-240
19. Connolly JP, Gruss J, Seto ML et al: Progressive postnatal craniosynostosis and increased intracranial pressure. Plast Reconstr Surg 2004; 113: 1313-1323 (Pubitemid 39201860)
20. Kan S-H, Elanko N, Johnson D 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 2002; 70: 472-486 (Pubitemid 34112300)
21. Bochukova EG, Roscioli T, Hedges DJ et al: Rare mutations of FGFR2 causing Apert syndrome: identification of the first partial gene deletion, and an Alu element insertion from a new subfamily. Hum Mutat 2009; 30: 204-211
22. Muenke M, Gripp KW, McDonald-McGinn DM 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: 555-564 (Pubitemid 27097603)
23. Mansour SL, Twigg SRF, Freeland RM, Wall SA, Li C, Wilkie AOM: Hearing loss in a mouse model of Muenke syndrome. Hum Mol Genet 2009; 18: 43-50
24. Ibrahimi OA, Zhang F, Eliseenkova AV, Linhardt RJ, Mohammadi M: Proline to arginine mutations in FGF receptors 1 and 3 result in Pfeiffer and Muenke craniosynostosis syndromes through enhancement of FGF binding affinity. Hum Mol Genet 2004; 13: 69-78 (Pubitemid 38072136)
25. Schweitzer DN, Graham Jr JM, Lachman RS et al: Subtle radiographic findings of achondroplasia in patients with Crouzon syndrome with acanthosis nigricans due to an Ala391Glu substitution in FGFR3. Am J Med Genet 2001; 98: 75-91 (Pubitemid 32041854)
26. Kress W, Schropp C, Lieb G et al: Saethre-Chotzen syndrome caused by TWIST 1 gene mutations: functional differentiation from Muenke coronal synostosis syndrome. Eur J Hum Genet 2006; 14: 39-48 (Pubitemid 43019082)
27. Johnson D, Horsley SW, Moloney DM 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: 1282-1293 (Pubitemid 30418526)
28. Seto ML, Hing AV, Chang J et al: Isolated sagittal and coronal craniosynostosis associated with TWIST box mutations. Am J Med Genet 2007; 143A: 678-686 (Pubitemid 46606676)
29. Elanko N, Sibbring JS, Metcalfe KA et al: A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. Hum Mutat 2001; 18: 535-541 (Pubitemid 33131555)
30. Grutzner E, Gorlin RJ: Craniofrontonasal dysplasia: phenotypic expression in females and males and genetic considerations. Oral Surg Oral Med Oral Pathol 1988; 65: 436-444
31. Wieacker P, Wieland I: Clinical and genetic aspects of craniofrontonasal syndrome: towards resolving a genetic paradox. Mol Genet Metab 2005; 86: 110-116 (Pubitemid 41412166)
32. Twigg SRF, Matsumoto K, Kidd AMJ et al: The origin of EFNB1 mutations in craniofrontonasal syndrome: frequent somatic mosaicism and explanation of the paucity of carrier males. Am J Hum Genet 2006; 78: 999-1010 (Pubitemid 43787691)
33. Compagni A, Logan M, Klein R, Adams RH: Control of skeletal patterning by ephrinB1-EphB interactions. Dev Cell 2003; 5: 217-230 (Pubitemid 37006467)
34. Rossi M, Jones RL, Norbury G, Bloch-Zupan A, Winter RM: The appearance of the feet in Pfeiffer syndrome caused by FGFR1 P252R mutation. Clin Dysmorphol 2003; 12: 269-274 (Pubitemid 37267194)
35. Huang N, Pandey AV, Agrawal V et al: Diversity and function of mutations in P450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis. Am J Hum Genet 2005; 76: 729-749 (Pubitemid 40563096)
36. Jenkins D, Seelow D, Jehee FS et al: RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity. Am J Hum Genet 2007; 80: 1162-1170 (Pubitemid 47579351)
37. Jehee FS, Johnson D, Alonso LG et al: Molecular screening for microdeletions at 9p22-p24 and 11q23-q24 in a large cohort of patients with trigonocephaly. Clin Genet 2005; 67: 503-510 (Pubitemid 40637448)
38. Jehee FS, Krepischi-Santos ACV, Rocha KM et al: High frequency of submicroscopic chromosomal imbalances in patients with syndromic craniosynostosis detected by a combined approach of microsatellite segregation analysis, multiplex ligation-dependent probe amplification and array-based comparative genome hybridisation. J Med Genet 2008; 45: 447-450 (Pubitemid 351977135)
39. Boyadjiev SA: International craniosynostosis consortium: genetic analysis of non-syndromic craniosynostosis. Orthod Craniofacial Res 2007; 10: 129-137
40. Morriss-Kay GM, Wilkie AOM: Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies. J Anat 2005; 207: 637-653 (Pubitemid 41723374)
41. Wilkie AOM, Bochukova EG, Hansen RM et al: Clinical dividends from the molecular genetic diagnosis of craniosynostosis. Am J Med Genet 2007; 143A: 1941-1949
42. Carter CO, Till K, Fraser V, Coffey : A family study of craniosynostosis, with probable recognition of a distinct syndrome. J Med Genet 1982; 19: 280-285 (Pubitemid 12041250)
43. Lajeunie E, Le Merrer M, Bonäti-Pellie C, Marchac D, Renier D: Genetic study of scaphocephaly. Am J Med Genet 1996; 62: 282-285
44. Lajeunie E, Le Merrer M, Marchac D, Renier D: Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients. Am J Med Genet 1998; 75: 211-215 (Pubitemid 28034504)
45. Goriely A, Lord H, Lim J et al: Germline and somatic mosaicism for FGFR2 mutation in the mother of a cild with Crouzon syndrome: Implications for genetic testing in 'paternal age-effect' syndromes. Am J Med Genet 2010; 152A: 2067-2073
46. Mathijssen IMJ, van Splunder J, Vermeij-Keers C et al: Tracing craniosynostosis to its developmental stage through bone center displacement. J Craniofac Genet Dev Biol 1999; 19: 57-63 (Pubitemid 29317516)
47. David AL, Turnbull C, Scott R et al: Diagnosis of Apert syndrome in the second-trimester using 2D and 3D ultrasound. Prenat Diagn 2007; 27: 629-632 (Pubitemid 47121590)
48. Thomas GPL, Wilkie AOM, Richards PG, Wall SA: FGFR3 P250R mutation increases the risk of reoperation in apparent 'nonsyndromic' coronal craniosynostosis. J Craniofac Surg 2005; 16: 347-352 (Pubitemid 40853066)
49. Arnaud E, Meneses P, Lajeunie E, Thorne JA, Marchac D, Renier D: Postoperative mental and morphological outcome for nonsyndromic brachycephaly. Plast Reconstr Surg 2002; 110: 6-12 (Pubitemid 34686239)
50. Woods RH, Ul-Haq E, Wilkie AOM et al: Reoperation for intracranial hypertension in TWIST1-confirmed Saethre-Chotzen syndrome: a 15-year review. Plast Reconstr Surg 2009; 123: 1801-1810
51. Shukla V, Coumoul X, Wang R-H, Kim H-S, Deng C-X: RNA interference and inhibition of MEK-ERK signaling prevent abnormal skeletal phenotypes in a mouse model of craniosynostosis. Nat Genet 2007; 39: 1145-1150 (Pubitemid 47340648)
52. Jabs EW: TWIST1 and the Saethre-Chotzen syndrome; in Epstein CJ, Erickson RP, Wynshaw-Boris A (eds): Inborn Errors of Development. Oxford: Oxford University Press, 2008, pp 474-481
53. Ornitz DM, Marie PJ: FGF signaling pathways in endochondral and intramembranous bone development and human genetic disease. Genes Dev 2002; 16: 1446-1465 (Pubitemid 34686327)
54. Passos-Bueno MR, Sertié AL, Jehee FS, Fanganiello R: Genetics of craniosynostosis: genes, syndromes, mutations and genotype-phenotype correlations. Front Oral Biol 2007; 12: 107-143
55. Twigg SRF, Wilkie AOM: EFNB1 and EFNA4 in craniofrontonasal syndrome and craniosynostosis; in Epstein CJ, Erickson RP, Wynshaw-Boris A (eds): Inborn Errors of Development. Oxford: Oxford University Press, 2008, pp 1476-1482
56. Webster MK, Donoghue DJ: FGFR activation in skeletal disorders: too much of a good thing. Trends Genet 1997; 13: 178-182 (Pubitemid 27219582)
57. Wilkie AOM: Bad bones, absent smell, selfish testes: the pleiotropic consequences of human FGF receptor mutations. Cytokine Growth Factor Rev 2005; 16: 187-203
58. Wilkie AOM: FGF receptor mutations: bone dysplasia, craniosynostosis, and other syndromes; in Epstein CJ, Erickson RP, Wynshaw-Boris A (eds): Inborn Errors of Development. Oxford: Oxford University Press, 2008, pp 461-470
59. Yu JE, Jeong SY, Yang JA, Park MS, Kim HJ, Yoon SH: Genotypic and phenotypic analyses of Korean patients with syndromic craniosynostosis. Clin Genet 2009; 76: 287-291.