Molecular analysis of patients with synostotic frontal plagiocephaly (unilateral coronal synostosis)

Plastic and Reconstructive Surgery

Volumn 113, Issue 7, 2004, Pages 1899-1909

  Mulliken, John B ^a   Gripp, Karen W ^b   Stolle, Catherine A ^b   Steinberger, Daniela ^b   Müller, Ulrich ^b  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANTHROPOMETRY; ARTICLE; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; FEMALE; FGFR2 GENE; FGFR3 GENE; GENE; GENE MUTATION; HUMAN; INFANT; MALE; PLAGIOCEPHALY; PRIORITY JOURNAL; SYNOSTOSIS; TWIST GENE; CEPHALOMETRY; CONGENITAL MALFORMATION; CRANIOFACIAL SYNOSTOSIS; GENETICS; MUTATION; NOSE; NUCLEOTIDE SEQUENCE; ORBIT; PATHOLOGY; PRESCHOOL CHILD; SKULL;

FGFR2 PROTEIN, HUMAN; FGFR3 PROTEIN, HUMAN; FIBROBLAST GROWTH FACTOR RECEPTOR; FIBROBLAST GROWTH FACTOR RECEPTOR 2; FIBROBLAST GROWTH FACTOR RECEPTOR 3; NUCLEAR PROTEIN; PROTEIN TYROSINE KINASE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR TWIST; TWIST1 PROTEIN, HUMAN;

ADULT; CEPHALOMETRY; CHILD, PRESCHOOL; CRANIOSYNOSTOSES; DNA MUTATIONAL ANALYSIS; FEMALE; HUMANS; INFANT; MALE; MUTATION; NOSE; NUCLEAR PROTEINS; ORBIT; PROTEIN-TYROSINE KINASES; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 2; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; RECEPTORS, FIBROBLAST GROWTH FACTOR; SKULL; TRANSCRIPTION FACTORS; TWIST TRANSCRIPTION FACTOR;

EID: 3242691642     PISSN: 00321052     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.PRS.0000122202.26792.BF     Document Type: Article

References (42)

1. Mulliken, J. B. The craniofacial surgeon as amateur geneticist. J. Craniofac. Surg. 13: 3, 2002.
2. Bruneteau, R. J., and Mulliken, J. B. Frontal plagiocephaly: Synostotic, compensational, or deformational. Plast. Reconstr. Surg. 89: 21, 1992.
3. Rogers, G. F., Proctor, M. R., and Mulliken, J. B. Isolated synostosis of the frontosphenoidal suture: An uncommon cause of synostotic frontal plagiocephaly. Plast. Reconstr. Surg. 109: 1011, 2002.
4. Muenke, M., Gripp, K. W., McDonald-McGinn, D. M., et al. A unique point mutation in fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am. J. Hum. Genet. 60: 555, 1997.
5. Gripp, K. W., McDonald-McGinn, D. M., Gaudenz, K., et al. Identification of a genetic cause for isolated unilateral coronal synostosis: A unique mutation in the fibroblast growth factor receptor 3. J. Pediatr. 132: 714, 1998.
6. Lajeunie, E., El Ghouzzi, V., LeMerrer, M., et al. Sex related expressivity of the phenotype in coronal craniosynostosis caused by the recurrent P250R FGFR3 mutation. J. Med. Genet. 36: 9, 1999.
7. Steinberger, D., Collmann, H., Schmalenberger, B., and Müller, U. A novel mutation (a886g) in exon 5 of FGFR2 in members of a family with Crouzon phenotype and plagiocephaly. J. Med. Genet. 34: 420, 1997.
8. Paznekas, W. A., Cunningham, M. L., Howard, T. D., et al. Genetic heterogeneity of Saethre-Chotzen syndrome due to Twist and FGFR2 mutations. Am. J. Hum. Genet. 62: 1370, 1998.
9. Saavedra, D., Richieri-Costa, A., Guion-Almeida, M.-L., and Cohen, M. M., Jr. Craniofrontonasal syndrome: Study of 41 patients. Am. J. Med. Genet. 61: 147, 1996.
10. Cohen, M. M., Jr. Craniofrontonasal syndrome. In M. M. Cohen, Jr., and R. E. MacLean (Eds.), Craniosynostosis: Diagnosis, Evaluation, and Management, 2nd Ed. New York: Oxford University Press, 2000. Pp. 380-384.
11. Feldman, G. J., Ward, D. E., Lajeunie-Renier, E., et al. A novel phenotypic pattern in X-linked inheritance: Craniofrontonasal syndrome maps to Xp22. Hum. Mol. Genet. 6: 1937, 1997.
12. Schell, U., Hehr, A., Feldman, G. J., et al. Mutations in the FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum. Mol. Genet. 4: 323, 1955.
13. Bellus, G. A., Gaudenz, K., Zackai, E. H., et al. Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes. Nat. Genet. 14: 174, 1996.
14. Steinberger, D., Mulliken, J. B., and Müller, U. Predisposition for cysteine substitutions in the immunoglobulin-like chain of FGFR2 in Crouzon syndrome. Hum. Genet. 96: 113, 1995.
15. Meyers, G. A., 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. 58: 491, 1996.
16. Orita, M., Iwahana, H., Kanazawa, H., et al. Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms. Proc. Natl. Acad. Sci. U.S.A. 86: 2766, 1989.
17. Gripp, K. W., Zackai, E. H., and Stolle, C. A. Mutations in the human TWIST gene. Hum. Mutat. 15: 150, 2000.
18. Mulliken, J. B., Godwin, S. L., Pracharktam, N., and Altobelli, D. E. The concept of the sagittal orbital-globe relationship in craniofacial surgery. Plast. Reconstr. Surg. 97: 700, 1996.
19. Hansen, M., Padwa, B. L., Scott, R. M., Stieg, P. E., and Mulliken, J. B. Synostotic frontal plagiocephaly: Anthropometric comparison of three techniques for surgical correction. Plast. Reconstr. Surg. 100: 1387, 1997.
20. Reardon, W., Winter, R. M., Rutland, P., et al. Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nat. Genet. 8: 98, 1994.
21. Wilkie, A. O. M., Slaney, S. F., Oldridge, M., et al. Apert syndrome results from localized mutations of FGFR2 and is allelic with Crouzon syndrome. Nat. Genet. 9: 165, 1995.
22. Meyers, G. A., Orlow, S. J., Munro, I. R., et al. Fibroblast growth factor receptor 3 (FGFR3) transmembrane mutation in Crouzon syndrome with acanthosis nigricans. Nat. Genet. 11: 462, 1995.
23. Wilkes, D., Rutland, P., Pulleyn, L. J., et al. A recurrent mutation, Ala391Glu, in the transmembrane region of FGFR3 causes Crouzon syndrome and acanthosis. J. Med. Genet. 33: 744, 1996.
24. Mulliken, J. B., Steinberger, D., Kunze, S., and Müller, U. Molecular diagnosis of bilateral coronal synostosis. Plast. Reconstr. Surg. 104: 1603, 1999.
25. Rutland, P., Pulleyn, L. J., Reardon, W., et al. Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon phenotypes. Nat. Genet. 8: 275, 1995.
26. Steinberger, D., Reinhartz, T., Unsöld, R., and Müller, U. FGFR2 mutation in clinically nonclassifiable autosomal dominant craniosynostosis with pronounced phenotypic variation. Am. J. Med. Genet. 66: 81, 1996.
27. Johnson, D., Horsley, S. W., Moloney, D. M., 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. 63: 1282, 1998.
28. Renier, D., El Ghouzzi, V., Bonaventure, J., et al. Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: Clinical spectrum, prevalence, and surgical outcome. J. Neurosurg. 92: 631, 2000.
29. Perlyn, C. A., Marsh, J. L., Pilgram, T. K., and Kane, A. Plasticity of the endocranial base in nonsyndromic craniosynostosis. Plast. Reconstr. Surg. 108: 294, 2001.
30. Lajeunie, E., LeMerrer, M., Bonaïti-Pellie, C., et al. Genetic study of scaphocephaly. Am. J. Med. Genet. 62: 282, 1996.
31. Kreiborg, S. Crouzon syndrome: A clinical and roentgenocephalometric study. Scand. J. Plast. Reconstr. Surg. Suppl. 18: 1, 1981.
32. Gorlin, R. J., Cohen, M. M., Jr., and Hennekam, R. C. M. Syndromes of the Head and Neck, 4th Ed. New York: Oxford University Press, 2001.
33. Lajeunie, E., LeMerrer, M., Marchac, D., and Renier, D. Syndromal and nonsyndromal primary trigonocephaly: Analysis of a series of 237 patients. Am. J. Med. Genet. 75: 211, 1998.
34. Li, X., Park, W.-J., Pyeritz, R. E., and Jabs, E. W. Effect on splicing of a silent FGFR2 mutation in Crouzon syndrome. Nat. Genet. 9: 232, 1995.
35. Moloney, M. P., Wall, S. A., Ashworth, G. J., et al. Prevalence of Pro250Arg mutation in fibroblast growth factor receptor 3 in coronal craniosynostosis. Lancet 349: 1059, 1997.
36. Reardon, W., Wilkes, D., Rutland, P., et al. Craniosynostosis associated with the FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic craniosynostosis. J. Med. Genet. 34: 632, 1997.
37. Cassileth, L. B., Bartlett, S. P., Glat, P. M., et al. Clinical characteristics of patients with unilateral coronal synostosis and mutations of fibroblast growth factor receptor 3: A preliminary report. Plast. Reconstr. Surg. 108: 1849, 2001.
38. Renier, D., El Ghouzzi, V., Bonaventure, J., LeMerrer, M., and Lajeunie, E. Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: Clinical spectrum, prevalence, and surgical outcome. J. Neurosurg. 92: 631, 2000.
39. Rice, D. P. C., Åberg, T., Chan, Y-S., et al. Integration of FGFR and TWIST in calvarial bone and suture development. Development 127: 1845, 2000.
40. Elanko, N., Sibbring, J. S., Metcalf, K. A., et al. A survey of TWIST for mutations in craniosynostosis reveals a variable length polyglycine tract in asymptomatic individuals. Hum. Mutat. 18: 535, 2001.
41. Wieland, I., Jakubiczka, S., Muschke, P., et al. Mapping of a further locus for X-linked craniofrontonasal syndrome. Cytogenet. Genome Res. 99: 285, 2002.
42. Zackai, E. H., Gripp, K. W., and Stolle, C. A. Craniosynostosis: Molecular testing. A necessity for counseling (Letter). Am. J. Med. Genet. 92: 157, 2000.