A new twist: Some patients with Saethre-Chotzen syndrome have a microdeletion syndrome

American Journal of Human Genetics

Volumn 63, Issue 5, 1998, Pages 1277-1281

  Zackai, Elaine H ^a,b   Stolle, Catherine A ^b  

^a CHILDREN S HOSPITAL OF PHILADELPHIA   (United States)

^b UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ACROCEPHALOSYNDACTYLY; BRACHYDACTYLY; CLINICAL FEATURE; CRANIOFACIAL SYNOSTOSIS; DIAGNOSTIC VALUE; EDITORIAL; GENE DELETION; GENE LOCATION; HETEROTOPIA; HUMAN; PRIORITY JOURNAL; PTOSIS; STRABISMUS;

EID: 0032231422     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/302125     Document Type: Editorial

References (33)

1. Bourgeois PS, Bolcato-Bellemin AL, Danse JM, Bloch-Zupan A, Yoshiba K, Stoetzel C, Perrin-Schmitt F (1998) The variable expressivity and incomplete penetrance of the twistnull heterozygous mouse phenotype resemble those of human Saethre-Chotzen syndrome. Hum Mol Genet 7:945-957
2. Bourgeois PS, Stoetzel C, Bolcato-Bellemin AL, Mattel MG, Perrin-Schmitt F (1996) The human H-twist gene is located at 7p21 and encodes b-HLH protein that is 96% similar to its murine M-twist counterpart. Mamm Genome 7:915-917
3. Brueton LA, van Herwerden L, Chotai KA, Winter RM (1992) The mapping of a gene for craniosynostosis: evidence for linkage of the Saethre-Chotzen syndrome to distal chromosome 7p. J Med Genet 29:681-685
4. Carter C, Till K, Fraser V, Coffey R (1982) A family study of craniosynostosis, with probable recognition of a distinct syndrome. J Med Genet 19:280-285
5. Chotzen F (1932) Eine eigenartige familiäre Entwicklungsstörung. (Akrocephalosyndaktylie, Dysostosis craniofacialis and Hypertelorismus). Mschr Kinderheilk 55:97-102
6. Cohen MM Jr (1986) Syndromes with craniosynostosis. In: Craniosynostosis: diagnosis, evaluation, and management. New York, Raven Press, pp. 413-590
7. El Ghouzzi V, Lajeunie E, Le Merrer M, Cormier V, Renier D, Munnich A, Bonaventure J (1997a) TWIST mutations disrupting the b-HLH domain are specific to Saethre-Chotzen syndrome. Am J Hum Genet Suppl 61:A1942
8. El Ghouzzi V, Le Merrer M, Perrin-Schmitt F, Lajeunie E, Benit P, Renier D, Bourgeois P, et al (1997b) Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet 15:42-46
9. Golla A, Lichtner P, von Gernet S, Winterpacht A, Fairly J, Murken J, Schuffenhauer S (1997) Phenotypic expression of the fibroblast growth factor receptor 3 (FGFR3) mutation P250R in a large craniosynostosis family. J Med Genet 34:683-684
10. Gripp KW, Kirschner R, Radcliffe J, Harriett SP, Whitaker LA, McDonald-McGinn D, Muenke M, et al (1998a) Update on the FGFR3 Pro250Arg mutation: surgical repair and intellectual development. David W. Smith 19th Annual Workshop on Malformations and Morphogenesis, Whistler, British Columbia
11. Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Glat PM, Cassileth LB, et al (1998b) Identification of the first genetic cause for isolated unilateral coronal synostosis: a mutation in the fibroblast growth factor receptor 3 (FGFR3). J Pediatr 132:714-716
12. Howard TD, Paznekas WA, Green ED, Chiang LC, Ma N, De Luna RIO, Delgado CG, et al (1997) Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nat Genet 15:36-41
13. Johnson D, Horsley SW, Moloney DM, Oldridge M, Twigg SRF, Walsh S, Barrow M, et al (1998) A comprehensive screen for TWIST mutations in patients with craniosynostosis identified a new microdeletion syndrome of chromosome band 7p21.1. Am J Hum Genet 63:1282-1293 (in this issue)
14. Lewanda AF, Cohen MM Jr, Jackson CE, Taylor EW, Li X, Beloff M, Day D, et al (1994a) Evidence that the Saethre-Chotzen syndrome locus lies between D7S664 and D75507, by genetic analysis and detection of a microdeletion in a patient. Am J Hum Genet 55:1195-1201
15. _ (1994b) Genetic heterogeneity among craniosynostosis syndrome: mapping the Saethre-Chotzen syndrome locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. Genomics 19:115-119
16. Muenke M, Gripp KW, McDonald-McGinn DM, Gaudenz K, Whitaker LA, Bartlett SP, Markowitz RI, et al (1997) A unique point mutation in the fibroblast growth factor receptor 3 gene (FGFR3) defines a new craniosynostosis syndrome. Am J Hum Genet 60:555-564
17. Pantke OA, Cohen MM Jr, Witkop CJ Jr, Feingold M, Schaumann B, Pankte HC, Gorlin RJ (1975) The Saethre-Chotzen syndrome. Birth Defects [original article series] 11:190-225
18. Paznekas WA, Cunningham ML, Howard TD, Korf BR, Lipson MH, Grix AW, Feingold M, et al (1998) Genetic heterogeneity of Saethre-Chotzen syndrome, due to TW/ST and FGFR mutations. Am J Hum Genet 62:1370-1380
19. Reardon W, McManus SP, Summers D, Winter RM (1993) Cytogenetic evidence that the Saethre-Chotzen syndrome gene maps to 7p21.2. Am J Med Genet 47:633-636
20. Reardon W, Winter RM (1994) Saethre-Chotzen syndrome. J Med Genet 31:393-396
21. Reid CS, McMorrow LE, McDonald-McGinn DM, Grace KJ, Ramos FJ, Zackai EH, Cohen MM Jr, et al (1993) SaethreChotzen syndrome with familial translocation at chromosome 7p22. Am J Med Genet 47:637-639
22. Robinow M, Sarouf TJ (1975) Acrocephalopolysydactyly, type Noack, in a large kindred. Birth Defects [original article series] 11:99-106
23. Rose CSP, King AAJ, Summers D, Palmer R, Yang S, Wilkie AOM, Reardon W (1994) Localization of the genetic locus for Saethre-Chotzen syndrome to a 6 cM region of chromosome 7 using four cases with apparently balanced translocations at 7p21.2. Hum Mol Genet 3:1405-1408
24. Rose CSP, Patel P, Reardon W, Malcolm S, Winter RM (1997) The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations or 7p21, is mutated in familial and sporadic cases. Hum Mol Genet 6:1369-1373
25. Saethre H (1931) Ein Beitrag zum Turmschädelproblem (Pathogenese, Erblichkeit und Symptomatologie) Deutsche Zeitschrift für Nervenheilkunde 117:533-555
26. Schmickel RD (1986) Contiguous gene syndromes: a component of recognizable syndromes. J Pediatr 109:231-241
27. Shidayama R, Hirano A, Iio Y, Fujii T (1995) Familial Saethre-Chotzen syndrome with or without polydactyly of the toe. Ann Plast Surg 34:435-440
28. Tsuji K, Narahara K, Kikkawa K, Murakami M, Yokoyama Y, Ninomiya S, Seino Y (1994) Craniosynostosis and hemizygosity for D7S135 caused by a de novo and apparently balanced t(6;7) translocation. Am J Med Genet 49:98-102
29. van Herwerden L, Rose CSP, Reardon W, Brueton LA, Weissenbach J, Malcolm S, Winter RM (1994) Evidence for locus heterogeneity in acrocephalosyndactyly: a refined localization for the Saethre-Chotzen syndrome locus on distal chromosome 7p and exclusion of Jackson-Weiss syndrome from craniosynostosis loci on 7p and 5q. Am J Hum Genet 54:669-674
30. von Gernet S, Schuffenhauer S, Golla A, Lichtner P, Balg S, Muhlbauer W, Murken J, et al (1996) Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p. Am J Med Genet 63:177-184
31. Wilkie AOM, Yang SP, Summers D, Poole M, Reardon W, Witner RM (1995) Saethre-Chotzen syndrome associated with balanced translocations involving 7p21: three further families. J Med Genet 32:174-180
32. Zackai EH, Breg WR (1973) Ring chromosome 7 with variable phenotypic expression. Cytogenet Cell Genet 12:40-48
33. Zackai EH, Gripp KW, McDonald-McGinn DM, Ming JE, Wilkie AOM, Muenke M, Stolle CA (1998) Some turns and twist on the road to understanding the craniosynostoses. David W. Smith 19th Annual Workshop on Malformations and Morphogenesis, Whistler, British Columbia