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Treacher Collins syndrome: from linkage to prenatal testing

Published online by Cambridge University Press:  29 June 2007

Michael J. Dixon*
Affiliation:
School of Biological Sciences and Departments of Dental Medicine and Surgery, University of Manchester, Manchester, U.K.
*
Address for correspondence: Michael J. Dixon, School of Biological Sciences and Departments of Dental Medicine and Surgery, 3.239, Stopford Building, University of Manchester, Oxford Road, Manchester M13 9PT. Fax: +44 (0)161 275 5620.

Abstract

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Type
Molecular Biology Series
Copyright
Copyright © JLO (1984) Limited 1998

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References

Am, P. H., Mankinen, C., Jabs, E. W. (1993) Mild mandibulofacial dysostosis in a child with a deletion of 3p. American Journal of Medical Genetics 46: 534536.Google Scholar
Balestrazzi, P., Baeteman, M. A., Mattei, M. G., 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. Human Genetics 64: 305308.CrossRefGoogle Scholar
Broomfield, A., Bourn, D. (1998) Basic techniques in molecular genetics. Journal of Laryngology and Otology 112: 230234.CrossRefGoogle ScholarPubMed
Cohen, J., Ghezzi, F., Goncalves, L., Fuentes, J. D., Paulyson, K. J., Sherer, D. M. (1995) Prenatal sonographic diagnosis of Teacher Collins syndrome: a case and review of the literature. American Journal of Perinatology 12: 416419.CrossRefGoogle Scholar
Deol, M. S. (1963) The development of the inner ear in mice homozygous for shaker-with-syndactylism. Journal of Embryology and Experimental Morphology 11: 493512.Google ScholarPubMed
Dixon, J., Edwards, S. J., Anderson, I., Brass, A., Scambler, P. J., Dixon, M. J. (1997a) Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. Genome Research 7: 223234.CrossRefGoogle ScholarPubMed
Dixon, J., Gladwin, A. J., Loftus, S. K., Riley, J., Perveen, R., Wasmuth, J. J., Anand, R., Dixon, M. J. (1994) A yeast artificial chromosome contig encompassing the Treacher Collins syndrome critical region at 5q31.3-32. American Journal of Human Genetics 55: 372378.Google Scholar
Dixon, J., Hovanes, K., Shiang, R., Dixon, M. J. (1997b) Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1. Human Molecular Genetics 6: 727737.CrossRefGoogle ScholarPubMed
Dixon, M. J., Dixon, J., Houscal, T., Bhatt, M., Ward, D. C., Klinger, K., 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. American Journal of Human Genetics 52: 907914.Google Scholar
Dixon, M. J., Dixon, J., Raskova, D., Le Beau, M. M., Williamson, R., Klinger, K., Landes, G. M. (1992) Genetic and physical mapping of the Treacher Collins syndrome locus: Refinement of the localization to chromosome 5q32- 33.2. Human Molecular Genetics 1: 249253.CrossRefGoogle ScholarPubMed
Dixon, M. J., Haan, E., Baker, E., David, D., McKenzie, N., Williamson, R., Mulley, J., Farrall, M., Callen, D. (1991a) Association of Treacher Collins syndrome and translocation 6p21.31/16p13.11: exclusion of the locus from these candidate regions. American Journal of Human Genetics 48: 274280.Google ScholarPubMed
Dixon, M. J., Read, A. P., Donnai, D., Colley, A., Dixon, J., Williamson, R. (1991b) The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. American Journal of Human Genetics 49: 1722.Google Scholar
Edery, P., Manach, Y., Le Merrer, M., Till, M., Vignal, A., Lyonnet, S., Munnich, A. (1994) Apparent genetic homogeneity of the Treacher Collins-Franceshetti syndrome. American Journal of Medical Genetics 52: 174177.CrossRefGoogle ScholarPubMed
Edwards, S. J., Fowlie, A., Cust, M. P., Liu, D. T. Y., Young, I. D., Dixon, M. J. (1996) Prenatal diagnosis in Treacher Collins syndrome using combined linkage analysis and ultrasound imaging. Journal of Medical Genetics 33: 603606.CrossRefGoogle ScholarPubMed
Edwards, S. J., Gladwin, A. J., Dixon, M. J. (1997) The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations which create a premature termination codon. American Journal of Human Genetics 60: 515524.Google ScholarPubMed
Gladwin, A. J., Dixon, J., Loftus, S. K., Wasmuth, J. J., Dixon, M. J. (1996a) Genomic organization of the human heparin sulfate-N-deacetylase/N-sulfotransferase gene: Exclusion from a causative role in the pathogenesis of Treacher Collins syndrome. Genomics 32: 471473.CrossRefGoogle Scholar
Gladwin, A. J., Dixon, J., Loftus, S. K., Edwards, S., Wasmuth, J. J., Hennekam, R. C. M., Dixon, M. J. (1996b) Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Human Molecular Genetics 5: 15331538.CrossRefGoogle ScholarPubMed
Gorlin, R. J., Cohen, M. M., Levin, L. S. (1990) Syndromes of the Head and Neck. Oxford University Press, Oxford.Google Scholar
Herring, S. W., Rowlatt, U. F., Pruzansky, S. (1979) Anatomical abnormalities in mandibulofacial dysostosis. American Journal of Medical Genetics 3: 225259.CrossRefGoogle ScholarPubMed
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., Rosenbaum, K. N. (1991a) 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: 188192.CrossRefGoogle Scholar
Jabs, E. W., Li, W., Coss, C. A., Taylor, E. W., Meyers, D. A., Weber, J. L. (1991b) Mapping the Treacher Collins syndrome locus to 5q31.3-q33.3. Genomics 11: 193198.CrossRefGoogle Scholar
Loftus, S. K., Dixon, J., Koprivnikar, K., Dixon, M. J., Wasmuth, J. J. (1996) Transcriptional map of the Treacher Collins candidate gene region. Genome Research 6: 2634.CrossRefGoogle Scholar
Loftus, S. K., Edwards, S. J., Scherpbier-Heddema, T., Buetow, K. H., Wasmuth, J. J., Dixon, M. J. (1993) A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q. Human Molecular Genetics 2: 17851792.CrossRefGoogle ScholarPubMed
Marres, H. A. M., Cremers, C. W. R. J., Dixon, M. J., Huygen, P. L. M., Joosten, F. B. M. (1995) The Treacher Collins syndrome: A clinical, radiological and genetic linkage study on two pedigrees. Archives of Otology 121: 509514.CrossRefGoogle Scholar
Meizner, I., Carmi, R., Katz, M. (1991) Prenatal ultrasonic diagnosis of mandibulofacial dysostosis (Treacher Collins syndrome). Journal of Clinical Ultrasound 19: 124127.CrossRefGoogle ScholarPubMed
Milligan, D. A., Harlass, F. E., Duff, P., Kopelman, J. N. (1994) Recurrence of Treacher Collins syndrome with sonographic findings. Military Medicine 159: 250252.CrossRefGoogle ScholarPubMed
Nicolaides, K. H., Johansson, D., Donnai, D., Rodeck, C. H. (1984) Prenatal diagnosis of mandibulofacial dysostosis. Prenatal Diagnosis 4: 201205.CrossRefGoogle ScholarPubMed
Phelps, P. D., Poswillo, D., Lloyd, G. A. S. (1981) The ear deformities in mandibulofacial dysostosis. Clinical Otolaryngology 6: 1528.CrossRefGoogle ScholarPubMed
Poswillo, D. (1975) The pathogenesis of the Treacher Collins syndrome (mandibulofacial dysostosis). British Journal of Oral Surgery 13: 126.CrossRefGoogle ScholarPubMed
Read, A. P. (1998) Molecular biology and the ENT surgeon in the millennium. Journal of Laryngology and Otology 112: 410.CrossRefGoogle ScholarPubMed
Stopps, K., MacDonald, F. (1998) Linkage analysis and the tracking of susceptibility genes. Journal of Laryngology and Otology 112: 323329.CrossRefGoogle ScholarPubMed
Sulik, K. K., Johnston, M. C., Smiley, S. J., Speight, H. S., Jarvis, B. E. (1987) Mandibulofacial dysostosis (Treacher Collins syndrome): a new proposal for its pathogenesis. American Journal of Medical Genetics 27: 359372.CrossRefGoogle ScholarPubMed
Treacher Collins Syndrome Collaborative Group (1996) Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature Genetics 12: 130136.CrossRefGoogle Scholar
Wiley, M. J., Cauwenbergs, P., Taylor, I. M. (1983) Effects of retinoic acid on the development of the facial skeleton in hamsters; early changes involving neural crest cells. Acta Anatomica 116: 180192.CrossRefGoogle ScholarPubMed
Wise, C. A., Chiang, L. C., Paznekas, W. A., Sharma, M., Musy, M. M., Ashley, J. A., Lovett, M., Jabs, E. W. (1997) TCOF1 gene encodes a putative nucleolar phosphoprotein that exhibits mutations in Treacher Collins syndrome throughout its coding region. Proceedings of the National Academy of Sciences USA 94: 31103115.CrossRefGoogle ScholarPubMed