title: Treacher Collins syndrome with a de Novo 5-bp deletion in the TCOF1 gene.
abstract: Treacher Collins syndrome (TCS) is an autosomal dominant disorder of craniofacial development with features including malar hypoplasia, micrognathia, microtia, downward slanting palpebral fissures, lower eyelid coloboma, conductive hearing loss, and cleft palate. TCS is caused by mutations in the TCOF1 gene, which encodes the nuclear phosphoprotein treacle. Here, we describe a 1-day-old male infant with classical TCS presentation. A 5-bp deletion in exon 22 of the TCOF1 gene (3469del ACTCT) was found to cause a premature stop codon. This is the first report of TCOF1 gene mutation in the Taiwanese population.
authors.affiliation: Institute of Medicine, Chung Shan Medical University, Chung Shan Medical University Hospital, Taichung, Taiwan.
authors.forename: Pen-Hua
authors.initials: PH
authors.lastname: Su
authors.forename: Jia-Yu
authors.initials: JY
authors.lastname: Chen
authors.forename: Suh-Jen
authors.initials: SJ
authors.lastname: Chen
authors.forename: Ju-Shan
authors.initials: JS
authors.lastname: Yu
mesh_terms: D001483:Base Sequence; D005091:Exons; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D009687:Nuclear Proteins / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D017384:Sequence Deletion; D013624:Taiwan
chemical_list: D009687:Nuclear Proteins; D010750:Phosphoproteins; C105442:TCOF1 protein, human