title: Exclusion of TCOF1 mutations in a case of bilateral Goldenhar syndrome and one familial case of microtia with meatal atresia.
abstract: A number of different disorders involving first and second branchial arch anomalies have been described as distinct entities, including Treacher-Collins-Franceschetti syndrome, Goldenhar syndrome, Nager syndrome and Miller syndrome. The significant phenotypic overlap between these disorders raises the issue of a common developmental origin. After the identification of mutations in TCOF1 as a general cause of the Treacher-Collins-Franceschetti syndrome, TCOF1 mutations were excluded in patients with unilateral signs of the Goldenhar syndrome spectrum. We also present two rare cases of bilateral Goldenhar syndrome and familial microtia with meatal atresia, respectively, in whom we also excluded TCOF1 mutations. Thus, genetic heterogeneity in different disorders of the first and second branchial arch development is supported.
authors.affiliation: Institute of Human Genetics, Friedrich-Alexander University of Erlangen-Nuremberg, Germany Department of Phoniatrics and Pediatric Audiology, University Hospital of Erlangen, Germany Institute of Human Genetics and Anthropology, University of Freiburg, Germany.
authors.forename: Christian T
authors.initials: CT
authors.lastname: Thiel
authors.forename: Frank
authors.initials: F
authors.lastname: Rosanowski
authors.forename: Jürgen
authors.initials: J
authors.lastname: Kohlhase
authors.forename: André
authors.initials: A
authors.lastname: Reis
authors.forename: Anita
authors.initials: A
authors.lastname: Rauch
mesh_terms: D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D004431:Ear, External / Q000002:abnormalities*; D005145:Face / Q000002:abnormalities; D006053:Goldenhar Syndrome / Q000235:genetics* / Q000473:pathology; D006579:Heterozygote; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D011110:Polymorphism, Genetic / Q000235:genetics
chemical_list: D009687:Nuclear Proteins; D010750:Phosphoproteins; C105442:TCOF1 protein, human; D004247:DNA