Treacher Collins syndrome

Human Molecular Genetics

Volumn 5, Issue REVIEW, 1996, Pages 1391-1396

  Dixon, Michael J ^a  

^a UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

AUTOSOMAL DOMINANT DISORDER; CHROMOSOME 5Q; GENE ISOLATION; GENE MAPPING; GENE MUTATION; HUMAN; MANDIBULOFACIAL DYSOSTOSIS; MARKER GENE; MOLECULAR CLONING; PRIORITY JOURNAL; SHORT SURVEY; YEAST ARTIFICIAL CHROMOSOME;

EID: 0029814274     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/5.supplement_1.1391     Document Type: Short Survey

References (57)

1. Thomson, A. (1846) Notice of several cases of malformation of the external ear, together with experiments on the state of hearing in such persons. Monthly J. Med. Sci., 7, 420.
2. Treacher Collins, E. (1900) Cases with symmetrical congenital notches in the outer part of each lid and defective development of the malar bones. Trans. Ophthalmol. Soc. UK, 20, 190-192.
3. Franceschetti, A. and Klein, D. (1949) Mandibulo-facial dysostosis: New hereditary syndrome. Acta. Ophthalmol., 27, 143-224.
4. Jones, K.L., Smith, D.W., Harvey, M.A., Hall, B.D. and Quan, L. (1975) Older paternal age and fresh gene mutation: data on additional disorders. J. Pediatr., 86, 84-88.
5. Phelps, P.D., Poswillo, D. and Lloyd, G.A.S. (1981) The ear deformities in mandibulofacial dysostosis. Clin. Otolaryngol., 6, 15-28.
6. Rovin, S., Dachi, S.F., Borenstein, D.B. and Cotter, W.B. (1964) Mandibulofacial dysostosis, a familial study of five generations. J. Pediatr., 65, 215-221.
7. Fazen, L.E., Elmore, J. and Nadler, H.L. (1967) Mandibulo-facial dysostosis (Treacher Collins syndrome). Am. J. Dis. Child., 113, 406-410.
8. Edwards, S.J., Fowlie, A., Cust, M.P., Liu, D.T.Y., Young, I.D. and Dixon, M.J. (1996) Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. J. Med. Genet. In press.
9. Dixon, M.J., Haan, E., Baker, E., David, D., McKenzie, N., Williamson, R., Mulley, J., Farrall, M. and Callen, D. (1991) Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions. Am. J. Hum. Genet., 48, 274-280.
10. Dixon, M.J., Marres, H.A.M., Edwards, S.J., Dixon, J. and Cremers, C.W.R.J. (1994) Treacher Collins syndrome: Correlation between clinical and genetic linkage studies. Clin. Dysmorph., 3, 96-103.
11. Marres, H.A.M., Cremers, C.W.R.J., Dixon, M.J., Huygen, P.L.M. and Joosten, F.B.M. (1995) The Treacher Collins syndrome: A clinical, radiological and genetic linkage study on two pedigrees. Archs. Otol., 121, 509-514.
12. Poswillo, D. (1975) The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). Br. J. Oral Surg., 13, 1-26.
13. Wiley, M.J., Cauwenbergs, P. and Taylor, I.M. (1983) Effects of retinoic acid on the development of the facial skeleton in hamsters; early changes involving neural crest cells. Acta. Anat., 116, 180-192.
14. Herring, S.W., Rowlatt, U.F. and Pruzansky, S. (1979) Anatomical abnormalities in mandibulofacial dysostosis. Am. J. Med. Genet., 3, 225-259.
15. Sulik, K.K., Johnston, M.C., Smiley, S.J., Speight, H.S. and Jarvis, B.E. (1987) Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. Am. J. Med. Genet., 27, 359-372.
16. Dixon, M.J., Read, A.P., Donnai, D., Colley, A., Dixon, J. and Williamson, R. (1991) The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. Am. J. Hum. Genet., 49, 17-22.
17. Jabs, E.W., Li, X., Coss, C.A., Taylor, E.W., Meyers, D.A. and Weber, J.L. (1991) Mapping the Treacher Collins syndrome locus to 5q31.3-q33.3. Genomics, 11, 193-198.
18. Dixon, M.J., Dixon, J., Raskova, D., Le Beau, M.M. Williamson, R., Klinger, K. and Landes, G.M. (1992) Genetic and physical mapping of the Treacher Collins syndrome locus: Refinement of the localization to chromosome 5q32-33.2. Hum. Mol. Genet., 1, 249-253.
19. Dixon, M.J., Dixon, J., Houseal, T., Bhatt, M., Ward, D.C., Klinger, K. and Landes, G.M. (1993) Narrowing the position of the Treacher Collins syndrome locus to a small interval between three new microsatellite markers at 5q32-33.1. Am. J. Hum. Genet., 52, 907-914.
20. Dausset, J., Cann, H., Cohen, D., Lathrop, M., Lalouel, J. and White, R. (1990) Centre d'Etude du Polymorphisme Humain (CEPH): Collaborative genetic mapping of the human genome. Genomics, 6, 575-577.
21. Loftus, S.K., Edwards, S.J., Scherpbier-Heddema, T., Buetow, K.H., Wasmuth, J.J. and Dixon, M.J. (1993) A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q. Hum. Mol. Genet., 2, 1785-1792.
22. Warrington, J.A., Hall, I.V., Hinton, L.M., Miller, J.N., Wasmuth, J.J. and Lovett, M. (1991) Radiation hybrid map of 13 loci on the long arm of chromosome 5. Genomics, 11, 701-708.
23. Ryan, S.G., Dixon, M.J., Nigro, M.A., Kelts, K.A., Markand, O.N., Terry, J.C., Shiang, R., Wasmuth, J.J. and O'Connell, P. (1992) Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q. Am. J. Hum. Genet., 51, 1334-1343.
24. Dixon, J., Gladwin, A.J., Loftus, S.K., Riley, J., Perveen, R., Wasmuth, J.J., Anand, R. and Dixon, M.J. (1994) A yeast artificial chromosome contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32. Am. J. Hum. Genet., 55, 372-378.
25. 2+ binding protein p68: a novel member of a protein family. EMBO J., 7, 21-27.
26. Loftus, S.K., Dixon, J., Koprivnikar, K., Dixon, M.J. and Wasmuth, J.J. (1996) Transcriptional map of the Treacher Collins candidate gene region. Genome Res., 6, 26-34.
27. Church, D.M., Stotler, C.J., Rutter, J.L., Murrel, J.R., Trofatter, J.A. and Buckler, A.J. (1994) Isolation of genes from complex sources of mammalian genomic DNA using exon amplification. Nature Genet., 6, 98-105.
28. Smith, P.D., Davies, A., Crumpton, M.J. and Moss, S.E. (1994) Structure of the human annexin VI gene. Proc. Natl Acad. Sci. USA, 91, 2713-2717.
29. Chu, F.F. (1994) The human glutathione peroxidase genes GPX2, GPX3, and GPX4 map to chromosomes 14, 5, and 19 respectively. Cytogenet. Cell Genet., 66, 96-98.
30. Yoshimura, S., Suemizu, H., Taniguchi, Y., Watanabe, K., Nomoto, Y., Katsuoka, Y., Arimori, S. and Moriuchi, T. (1991) Molecular cloning of human plasma glutathione peroxidase gene and its expression in the kidney. Nucleic Acids Symp. Series, 25, 163-164.
31. Dixon, J., Loftus, S.K., Gladwin, A.J., Scambler, P.J., Wasmuth, J.J. and Dixon, M.J. (1995) Cloning of the human heparan sulfate-N-deacetylase/ N-sulfotransferase gene from the Treacher Collins syndrome candidate region at 5q32-33.1. Genomics, 26, 239-244.
32. Gladwin, A.J., Dixon, J., Loftus, S.K., Wasmuth, J.J. and Dixon, M.J. (1996) Genomic organization of the human heparan sulfate-N-deacetylase/N-sulfotransferase gene: Exclusion from a causative role in the pathogenesis of Treacher Collins syndrome. Genomics, 32, 471-473.
33. Wei, Z., Swiedler, S.J., Ishihara, M., Orellana, A. and Hirschberg, C.B. (1993) A single protein catalyses both N-deacetylation and N-sulfation during the biosynthesis of heparan sulfate. Proc. Natl Acad. Sci. USA, 90, 3885-3888.
34. David, G., Bai, X.M., Van Der Schueren, B., Cassiman, J.J. and Van Den Berghe, H. (1992) Developmental changes in heparan sulfate expression: In situ detection with Mabs. J. Cell Biol., 119, 961-975.
35. Turnbull, J.E., Fernig, D., Ke, Y., Wilkinson, M.C. and Gallagher, J.T. (1992) Identification of the basic FGF binding sequence in fibroblast heparan sulphate. J. Biol. Chem., 267, 10337-10341.
36. Habuchi, H., Suzuki, S., Saito, T., Tamura, T., Harada, T., Yoshida, K. and Kimata, K. (1992) Structure of a heparan sulphate oligosaccharide that binds to fibroblast growth factor. Biochem. J., 285, 805-813.
37. Ishihara, M., Guo, Y., Wei, Z., Yang, Z., Swiedler, S.J., Orellana, A. and Hirschberg, C.B. (1993) Regulation of biosynthesis of the basic fibroblast growth factor binding domains of heparan sulfate by heparan sulfate-N-deacetylase/ N-sulfotransferase expression. J. Biol. Chem., 268, 20091-20095.
38. Mulvihill, J.J. (1995) Craniofacial syndromes: no such thing as a single gene disease. Nature Genet., 9, 101-103.
39. Tavormina, P.L., Shiang, R., Thompson, L.M., Zhu, Y.Z., Wilkin, D.J., Lachman, R.S., Wilcox, W.R., Rimoin, D.L., Cohn, D.H. and Wasmuth, J.J. (1995) Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nature Genet., 9, 321-328.
40. Jabs, E.W., Li, X., Lovett, M., Yamaoka, L.H., Taylor, E., Speer, M.C., Coss, C., Cadle, R., Hall, B., Brown, K., Kidd, K.K., Dolganov, G., Polymeropoulos, M.H. and Meyers, D. (1993) Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. Genomics, 18, 7-13.
41. Treacher Collins Syndrome Collaborative Group (1996) Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature Genet., 12, 130-136.
42. Hanson, I. and Van Heyningen, V. (1995) Pax6: more than meets the eye. Trends Genet., 11, 268-272.
43. Balestrazzi, P., Baeteman, M.A., Mattei, M.G. and Mattei, J.F. (1983) Franceshetti syndrome in a child with a de novo balanced translocation (5;13)(q11;p11) and significant decrease of hexosaminidase B. Hum. Genet., 64, 305-308.
44. Jabs, E.W., Coss, C.A., Hayflick, S.J., Whitmore, T.E., Pauli, R.M., Kirkpatrick, S.J., Meyers, D.A., Goldberg, R., Day, D.W. and Rosenbaum, K.N. (1991) Chromosomal deletion 4p15.32-p14 in a Treacher Collins syndrome patient: Exclusion of the disease locus from and mapping of anonymous DNA sequences to this region. Genomics, 11, 188-192.
45. Arn, P.H., Mankinen, C. and Jabs, E.W. (1993) Mild mandibulofacial dysostosis in a child with a deletion of 3p. Am. J. Med. Genet., 46, 534-536.
46. Edery, P., Manach, Y., Le Merrer, M., Till, M., Vignal, A., Lyonnet, S. and Munnich, A. (1994) Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome. Am. J. Med. Genet., 52, 174-177.
47. Meizner, I., Carmi, R. and Katz, M. (1991) Prenatal ultrasonic diagnosis of mandibulofacial dysostosis (Treacher Collins syndrome). J. Clin. Ultrasound, 19, 124-127.
48. Milligan, D.A., Harlass, F.E., Duff, P. and Kopelman, J.N. (1994) Recurrence of Treacher Collins syndrome with sonographic findings. Mil. Med., 159, 250-252.
49. Nicolaides, K.H., Johansson, D., Donnai, D. and Rodeck, C.H. (1984) Prenatal diagnosis of mandibulofacial dysostosis. Prenat. Diagn., 4, 201-205.
50. Reardon, W., Winter, R.M., Rutland, P., Pulleyn, L.J., Jones, B. and Malcolm, S. (1994) Mutations in the fibroblast growth factor receptor 2 gene cause Crouzon syndrome. Nature Genet., 8, 98-103.
51. Jabs, E.W., Li, X., Scott, A.F., Meyers, G., Chen, W., Eccles, M., Mao, J., Charnas, L.R., Jackson, C.E. and Jaye, M. (1994) Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nature Genet., 8, 275-279.
52. Wilkie, A.O.M., Slayney, S.F., Oldridge, M., Poole, M.D., Ashworth, G., Hockley, A.D., Hayward, R.D., David, D.J., Pulleyn, L.J., Rutland, P., Malcolm, S., Winter, R.M. and Reardon, W. (1995) Apert syndrome results from localised mutations of FGFR2 and is allelic with Crouzon syndrome. Nature Genet., 9, 165-172.
53. Rutland, P., Pulleyn, L.J., Reardon, W., Baraitser, M., Hayward, R., Jones, B., Malcolm, S., Winter, R.M., Oldridge, M., Slaney, S.F., Poole, M.D. and Wilkie, A.O.M. (1995) Identical mutations in the FGFR2 gene cause both Pfeiffer and Crouzon syndrome. Nature Genet., 9, 173-176.
54. Sulik, K.K. and Dehart, D.B. (1988) Retinoic acid-induced limb malformations arising from apical ectodermal ridge cell death. Teratology, 37, 527-537.
55. Sulik, K.K., Smiley, S.J., Turvey, T.A., Speight, H.S. and Johnston, M.C. (1989) Pathogenesis of cleft palate in Treacher Collins, Nager, and Miller syndromes. Cleft Palate J., 26, 209-216.
56. Pinsky, L. (1979) Penetrance and variability of major malformation syndromes associated with deafness. In O'Donnell, J.J. and Hall, B.D. (eds.), Penetrance and variability in malformation syndromes. Alan R. Liss, Inc., New York, pp. 207-226.
57. Juriloff, D.M., Harris, M.J. and Froster-Iskenius, U. (1987) Hemifacial deficiency induced by a shift in dominance of the mouse mutation far: A possible genetic model for hemifacial microsomia. J. Craniofac. Dev. Biol., 7, 27-44.