Clinical features, treatment and genetic background of Treacher Collins syndrome

Journal of Applied Genetics

Volumn 43, Issue 2, 2002, Pages 223-233

  Marszałek, Bozena ^a   Wójcicki, Piotr ^b   Kobus, Kazimierz ^b   Trzeciak, Wiesław H ^a  

^a POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^b Hospital of Plastic Surgery   (Poland)

Author keywords

Diagnostics; Mutations; TCOF1 gene; Treacher Collins syndrome; Treacle; Treatment

Indexed keywords

MICROTIA;

NUCLEAR PROTEIN; PHOSPHOPROTEIN; TCOF1 PROTEIN, HUMAN;

CHROMOSOME 5; GENETICS; HUMAN; MANDIBULOFACIAL DYSOSTOSIS; MUTATION; REVIEW;

CHROMOSOMES, HUMAN, PAIR 5; HUMANS; MANDIBULOFACIAL DYSOSTOSIS; MUTATION; NUCLEAR PROTEINS; PHOSPHOPROTEINS;

EID: 0036047887     PISSN: 12341983     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (24)

1. BERRY G.A. (1889). Note on a congenital defect colobomata of the lower lid. R. Lond. Ophthalmic. Hosp. Rep. 12: 255.
2. BRENT B. (1992). Auricular repair with autogenous rib cartilage grafts: two decades of experience with 600 cases. Plast. Reconstr. Surg. 90: 355-374.
3. CHELSKY D., RALPH R., JONAK G. (1989). Sequence requirements for synthetic peptide-mediated translocation to the nucleus. Mol. Cell Biol. 9: 2487-2492.
4. 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 Res. 7: 223-234.
5. DIXON J., HOVANES K., SHIANG R., DIXON M.J. (1997b). Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provides further evidence for a potential function for the gene and its human homologue, TCOF1. Hum. Mol. Genet. 6: 727-737.
6. DIXON M.J., READ A.P., DONNAI D., COLLEY A., DIXON J., WILLIAMSON R. (1991). The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. Am. J. Hum. Genet. 49: 17-22.
7. EDWARDS S.J., GLADWIN A.J., DIXON M.J. (1997). The mutational spectrum in Treacher Collins Syndrome reveals a predominance of mutations that create a premature termination codon. Am. J. Hum. Genet. 60: 515-524.
8. FRANCHESCHETTI A., KLEIN D. (1949). The mandibulofacial dysostosis: A new hereditary syndrome. Acta Ophthalmol. (Scand). 27: 143.
9. GLADWIN A.J., DIXON J., LOFTUS S.K., EDWARDS S., WASMUTH J.J., HENNEKAM R.C.M., DIXON M.J. (1996). Treacher Collins syndrome may result from insertions, deletions or splicing mutations, which introduce a termination codon into the gene. Hum. Mol. Genet. 5: 1533-1538.
10. GORLIN R.J., COHEN M.M., LEVIN L.S. (1990). Syndromes of the head and neck. Oxford University Press. Oxford.
11. ISAAC C., MARSH K.L., PAZNEKAS W.A., DIXON J., DIXON M.J., JABS E.W., MEIER U.T. (2000). Characterization of the nucleolar gene product, treacle, in Treacher Collins syndrome. Mol. Biol. Cell. 1: 3061-3071.
12. JABS E.W., LI X., COSS C.A., TAYLOR E.W., MEYERS D.A., WEBER J.L. (1991). Mapping the Treacher Collins syndrome locus to 5q31.3-q33.3. Genomics. 11: 193-198.
13. JONES N.C., FARLIE P.G., MINICHIELLO J., NEWGREEN D.F. (1999). Detection of an appropriate kinase activity in branchial arches I and II that coincides with peak expression of the Treacher Collins syndrome gene product, treacle. Hum. Mol. Genet. 8: 2239-2245.
14. JONES K.L., SMITH D.W., HARVEY M.A., HALL B.D., QUAN L. (1975). Older paternal age and fresh gene mutation: data on additional disorders. J. Pediatr. 86: 84-88.
15. LOFTUS S.K., DIXON J., KOPRIVNIKAR K., DIXON M.J., WASMUTH J.J. (1996). Transcriptional map of the Treacher Collins candidate gene region. Genome Res. 6: 26-34.
16. MEIER U.T., BLOBEL G. (1990). A nuclear localization signal binding protein in the nucleolus. J. Cell Biol. 111: 2235-2245.
17. NAGATA S. (1993). A new method of total reconstruction of the auricle for microtia. Plast. Reconstr. Surg. 92: 187-201.
18. SPLENDORE A., SILVA E.O., ALONSO L.G., RICHIERI-COSTA A., ALONSO N., ROSA A., CARAKUSHANKY G., CAVALCANTI D.P., BRUNONI D., PASSOS-BUENO M.R. (2000). High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum. Mutat. 16: 315-322.
19. TESSIER P. (1976). Anatomical classification of facial, craniofacial and latero-facial clefts. J. Maxillofac. Surg. 4: 69.
20. TESSIER P., TULASNE J-F. (1986). Cranial surgery update. In: Advances in Plastic and Reconstructive Surgery (Habal M.B., ed.). Vol.2. Year Book Medical Publishers 30.
21. TREACHER COLLINS E.T. (1900). Cases with symmmetrical congenital notches in the outer part of each lower lid and defective development of malar bones. Trans. Ophthalmol. Soc. UK. 20: 190.
22. TREACHER COLLINS SYNDROME COLLABORATIVE GROUP. (1996). Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nature Genet. 12: 130-136.
23. WAITZMAN A.A., POSNICK J.C., ARMSTRONG D., PRON G.E. (1992). Craniofacial skeletal measurements based on computed tomography. Part 2: Normal values and growth trends. Cleft Palate Craniofacial J. 29: 118-128.
24. 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 phosphorylation that exibits mutation in Treacher Collins syndrome throughout its coding region. Proc. Natl. Acad. Sci. USA. 94: 3110-3115.