title: Identification of mutations in TCOF1: use of molecular analysis in the pre- and postnatal diagnosis of Treacher Collins syndrome.
abstract: Treacher Collins syndrome (TCS) is an autosomal dominant disorder of facial development, which results from mutations in TCOF1. TCS comprises conductive hearing loss, hypoplasia of the mandible and maxilla, downward sloping palpebral fissures and cleft palate. Although, there is usually a reasonable degree of bilateral symmetry, a high degree of both inter- and intrafamilial variability is characteristic of TCS. The wide variation in the clinical presentation of different patients, together with the fact that more than 60% of cases arise de novo, can complicate the diagnosis of mild cases and genetic counselling. In the current study, we describe how molecular techniques have been used to facilitate pre- and postnatal disease diagnoses in 13 TCS families.
authors.affiliation: School of Biological Sciences and Department of Dental Medicine and Surgery, University of Manchester, Manchester, England. jill.dixon@man.ac.uk
authors.forename: Jill
authors.initials: J
authors.lastname: Dixon
authors.forename: Ian
authors.initials: I
authors.lastname: Ellis
authors.forename: Armand
authors.initials: A
authors.lastname: Bottani
authors.forename: Karen
authors.initials: K
authors.lastname: Temple
authors.forename: Michael James
authors.initials: MJ
authors.lastname: Dixon
mesh_terms: D005260:Female; D006801:Humans; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree; D010750:Phosphoproteins / Q000235:genetics*; D011296:Prenatal Diagnosis
chemical_list: D009687:Nuclear Proteins; D010750:Phosphoproteins; C105442:TCOF1 protein, human