title: Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1.
abstract: Treacher Collins syndrome (TCS) is caused by mutations in TCOF1 of the nonsense, small deletion, and small insertion types, which most likely result in haploinsufficiency. We report a novel de novo nonsense mutation 2731C --> T, resulting in Arg911Stop, which truncates the protein. Our patient had the classic findings of TCS, but with documented craniosynostosis, choanal atresia, and esophageal regurgitation.
authors.affiliation: Department of Plastic and Reconstructive Surgery, Hokkaido University Graduate School of Medicine, Hokkaido, Japan. k-horiu@mxh.mesh.ne.jp
authors.forename: Katsumi
authors.initials: K
authors.lastname: Horiuchi
authors.forename: Tadashi
authors.initials: T
authors.lastname: Ariga
authors.forename: Hirotaka
authors.initials: H
authors.lastname: Fujioka
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Kawashima
authors.forename: Yuhei
authors.initials: Y
authors.lastname: Yamamoto
authors.forename: Hiroharu
authors.initials: H
authors.lastname: Igawa
authors.forename: Yukio
authors.initials: Y
authors.lastname: Sakiyama
authors.forename: Tsuneki
authors.initials: T
authors.lastname: Sugihara
mesh_terms: D001120:Arginine / Q000737:chemistry; D002675:Child, Preschool; D018389:Codon, Nonsense; D018388:Codon, Terminator / Q000737:chemistry; D003398:Craniosynostoses / Q000235:genetics*; D004252:DNA Mutational Analysis; D005091:Exons; D019066:Facies; D005260:Female; D005764:Gastroesophageal Reflux / Q000235:genetics*; D017353:Gene Deletion; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000235:genetics*; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D014057:Tomography, X-Ray Computed
chemical_list: D018389:Codon, Nonsense; D018388:Codon, Terminator; D009687:Nuclear Proteins; D010750:Phosphoproteins; C105442:TCOF1 protein, human; D001120:Arginine