title: Clinical features, treatment and genetic background of Treacher Collins syndrome.
abstract: Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development. The major features of the disease include midface hypoplasia, micrognathia, microtia, conductive hearing loss and cleft palate. Current procedures of surgical treatment of TCS are discussed and novel findings concerning the genetic background of TCS are described. The TCS locus has been mapped to chromosome 5q31.3-32. The TCOF1 gene contains 26 exons and encodes a 1411 amino acid protein named treacle. In the TCOF1 gene 51 mutations have been identified. Most of these mutations are insertions or deletions, which result in an introduction of a premature termination codon into the reading frame. Mutational spectra support the hypothesis that TCS results from haploinsufficiency of treacle.
authors.affiliation: Department of Biochemistry and Molecular Biology, K. Marcinkowski University of Medical Sciences, Poznań, Poland.
authors.forename: Bozena
authors.initials: B
authors.lastname: Marszałek
authors.forename: Piotr
authors.initials: P
authors.lastname: Wójcicki
authors.forename: Kazimierz
authors.initials: K
authors.lastname: Kobus
authors.forename: Wiesław H
authors.initials: WH
authors.lastname: Trzeciak
mesh_terms: D002895:Chromosomes, Human, Pair 5; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis / Q000235:genetics / Q000601:surgery; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D010750:Phosphoproteins / Q000235:genetics
chemical_list: D009687:Nuclear Proteins; D010750:Phosphoproteins; C105442:TCOF1 protein, human