title: Facial asymmetry and clinical manifestations in patients with novel insertion of the TCOF1 gene.
abstract: This study explored the role of TCOF1 insertion mutations in Taiwanese patients with craniofacial anomalies. Twelve patients with single or multiple, asymmetrical congenital craniofacial anomalies were enrolled. Genomic DNA was prepared from leukocytes; the coding regions of TCOF1 were analyzed by polymerase chain reaction and direct sequencing. Clinical manifestations were correlated to the TCOF1 mutation. Six of 12 patients diagnosed with hemifacial microsomia exhibited a novel insertion mutation 4127 ins G (frameshift) in exon 24 in the TCOF1 gene. All six patients were diagnosed with anomalies on the left side. In addition, four of these six patients had hearing impairment; three had other major anomalies; and two had developmental delay. The insertion caused a frameshift, an early truncation, the loss of two putative nuclear localization signals (residues 1404-1420 and 1424-1440), and the loss of coiled coil domain (1406-1426) in treacle protein. These findings support the existence of two regulators of growth of the mandibular condyles.
authors.affiliation: Division of Genetics, Department of Pediatrics School of Medicine Department of Biomedical Sciences, Chung Shan Medical University, Taichung City, Taiwan.
authors.forename: P-H
authors.initials: PH
authors.lastname: Su
authors.forename: Y-F
authors.initials: YF
authors.lastname: Liu
authors.forename: J-S
authors.initials: JS
authors.lastname: Yu
authors.forename: J-Y
authors.initials: JY
authors.lastname: Chen
authors.forename: S-J
authors.initials: SJ
authors.lastname: Chen
authors.forename: Y-J
authors.initials: YJ
authors.lastname: Lai
mesh_terms: D000328:Adult; D002648:Child; D002675:Child, Preschool; D019465:Craniofacial Abnormalities / Q000235:genetics / Q000473:pathology; D005091:Exons; D005146:Facial Asymmetry / Q000235:genetics*; D005260:Female; D016368:Frameshift Mutation; D015894:Genome, Human / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D016254:Mutagenesis, Insertional; D019913:Nuclear Localization Signals / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics* / Q000378:metabolism; D010641:Phenotype; D010750:Phosphoproteins / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D017422:Sequence Analysis, DNA; D013624:Taiwan
chemical_list: D019913:Nuclear Localization Signals; D009687:Nuclear Proteins; D010750:Phosphoproteins; C105442:TCOF1 protein, human