The TWIST gene, although not disrupted in Saethre-Chotzen patients with apparently balanced translocations of 7p21, is mutated in familial and sporadic cases

Human Molecular Genetics

Volumn 6, Issue 8, 1997, Pages 1369-1373

  Rose, C S P ^a   Patel, P ^a   Reardon, W ^a   Malcolm, S ^a   Winter, R M ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACROCEPHALOSYNDACTYLY; AMINO ACID SEQUENCE; ARTICLE; CASE REPORT; CHROMOSOME 7P; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; CRANIOFACIAL SYNOSTOSIS; FLUORESCENCE IN SITU HYBRIDIZATION; GENE LOCATION; GENE MAPPING; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; MISSENSE MUTATION; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; SOUTHERN BLOTTING;

ACROCEPHALOSYNDACTYLIA; CHROMOSOMES, HUMAN, PAIR 7; DNA MUTATIONAL ANALYSIS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MUTATION; NUCLEAR PROTEINS; RESTRICTION MAPPING; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC; TWIST TRANSCRIPTION FACTOR;

EID: 0030753595     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.8.1369     Document Type: Article

References (21)

1. Reardon, W. and Winter,R.M. (1994) Saethre-Chotzen syndrome. J. Med. Genet. 31, 393-396.
2. Brueton,L.A., van Herwerden,L., Chotai,K.A. and Winter,R.M. (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.
3. van Herwerden,L., Rose,C.S.P., Reardon,W., Brueton,L.A., Weissenbach,J., Malcolm.S. and Winter,R.M. (1994) Linkage analysis with microsatellite polymorphisms refines the localisation of the Saethre Chotzen gene to distal chromosome 7p. Am. J. Hum. Genet. 54, 669-674.
4. Rose,C.S.P., King,A.J.J., Summers,D., Palmer,R., Yang,S., Wilkie,A.O.M., Reardon,W., Malcolm,S. and Winter,R.M. (1994) Localisation of the gene for Saethre-Chotzen syndrome by FISH using four cases with apparently balanced translocations at 7p21. Hum. Mol. Genet. 3, 1413-1418.
5. Rose,C.S.P., King,A.A.J., Summers,D., Palmer,R., Yang,S., Wilkie,A.O.M., Reardon,W., Winter,R.M. and Malcolm,S. (1994) Am. J. Hum. Genet. 55, A1572.
6. Dib,C.,Faure,S.,Fizames,C.,Samson,D.,Drouot,N.,Vignal,A.,Millaseau,P., Marc,S., Hazan,J., Seboun,E., Lathrop,M., Gyapay,G., Morisette,J. and Weissenbach,J. (1996) A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 380, 152-154.
7. Engelkamp,D. and Van Heyningen,V. (1996). Transcription factors in disease. Curr. Opin. Genet. Dev. 6, 334-342.
8. de Kok,Y.J.M., van der Maarel,S.M., Bitner-Glindzicz,M., Huber,I., Monaco,A.P., Malcolm,S., Pembrey,M.E. and Ropers,H.H. (1995) Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4. Science 267, 685-688.
9. Semina,E.V., Reiter,R., Leysens,N.J., Alward,W.L., Small,K.W., Datson,N.A., Siegel-Bartelt,J., Bierke-Nelson,D., Bitoun,P., Zabel,B.U., Carey,J.C. and Murray,J.C. (1996) Cloning and characterisation of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nature Genet. 14, 392-399.
10. Crackower,M.A., Scherer,S.W., Rommens,J.M., Hui,C.,Poorkaj,P.,Soder,S., Cobben,J.M., Hudgins,L., Evans,J.P. and Tsui,L. (1996) Characterization of the split hand/split foot malformation locus SHFM1 at 7q21.3-q22.1 and analysis of a candidate gene for its expression during limb development. Hum. Mol. Genet. 5, 571-579.
11. Howard,T.D., Paznekas,W., Green,E.D., Chiang,L.C., Ma,N., Ortiz de Luna,R.I., Delgado,C.G., Gonzalea-Ramos,M., Kline,A.D. and Jabs,E.W. (1997) Mutations in TWIST, a basic helix-loop-helix transcription factor, in Saethre-Chotzen syndrome. Nature Genet. 15, 36-41.
12. El Ghouzzi,V., Le Merrer,M., Perrin-Schmitt,F., Lajeunie,E., Benit,P., Renier,D., Bourgeois,P., Bolcato-Bellemin,A., Munnich,A. and Bonaventure,J. (1997) Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nature Genet. 15, 42-46.
13. Reardon,W., Wilkes,D., Rutland,P., Pulleyn,L.J., Malcolm,S., Dean,J.C.S., Jones,B.M., Hayward,R., Hall,C.M., Nevin,N.C., Baraitser,M. and Winter,R.M. (1997) Craniosynostosis associated with FGFR3 pro250arg mutation results in a range of clinical presentations including unisutural sporadic Craniosynostosis. J. Med. Genet. in press.
14. Bellus,G.A., Gaudenz,K., Zackai,E.H., Clarke,L.A., Szabo,J., Francomano,C.A. and Muenke,M. (1996) Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant Craniosynostosis syndromes. Nature Genet. 14, 174-176.
15. Moloney,D.M., Wall,S.A., Ashworth,G.J., Oldridge,M., Glass,I.A., Francomano,C.A., Muenke,M. and Wilkie,A.O.M. (1997) Prevalence of Pro250Arg mutation of fibroblast growth factor receptor 3 in coronal Craniosynostosis. Lancet 349, 1059-1062.
16. Lewanda,A.F., Cohen,M.M., Jackson,C.E., Taylor,E.W., Li,X., Beloff,M., Day,D., Clarren,S.K., Oritz,R., Garcia,C., Hauselman,E., Figueroa,A., Wulfsberg,E., Wilson,M., Warman,M.L., Padwa,B.L., Whiteman,D.A.H., Mulliken,J.B. and Jabs,E.W. (1994) Genetic heterogeneity among Craniosynostosis syndromes: mapping the Saethre-Chotzen locus between D7S513 and D7S516 and exclusion of Jackson-Weiss and Crouzon syndrome loci from 7p. Genomics 19, 115-119.
17. Ma,H.W., Lajeunie,E., de Parseval,N., Munnich,A., Renier,D. and Le Merrer,M. (1996) Possible genetic heterogeneity in the Saethre-Chotzen syndrome. Hum. Genet. 98, 228-232.
18. Chotai,K.A., Brueton,L.A., van Herwerden,L., Garrett,C., Hinkel,G.K., Schinzel,A., Mueller,R.F., Speleman,F. and Winter,R.M. (1994) Six cases of 7p deletion: clinical, cytogenetic and molecular studies. Am. J. Med. Genet. 51, 270-276.
19. Voronova,A. and Baltimore,D. (1990) Mutations that disrupt DNA binding and dimer formation in the E47 helix-loop-helix protein map to distinct domains. Proc. Natl. Acad. Sci. USA 87, 4722-4726.
20. Lichter,P., Tang,C.-J.C., Call,K., Hermanson,G., Evans,G.A., Housman,D. and Ward,D.C. (1990) High-resolution mapping of human chromosome 11 by in situ hybridisation with cosmid clones. Science 247, 64-69
21. Pinkel,D., Straume,T. and Gray,J.W. (1986) Cytogenetic analysis using quantitative, high-sensitivity, fluorescence hybridisation. Proc. Natl. Acad. Sci. USA 83, 2934-2938.