Treacher Collins syndrome with craniosynostosis, choanal atresia, and esophageal regurgitation caused by a novel nonsense mutation in TCOF1.
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.
Horiuchi
Katsumi
K
Department of Plastic and Reconstructive Surgery, Hokkaido University Graduate School of Medicine, Hokkaido, Japan. k-horiu@mxh.mesh.ne.jp
Ariga
Tadashi
T
Fujioka
Hirotaka
H
Kawashima
Kunihiro
K
Yamamoto
Yuhei
Y
Igawa
Hiroharu
H
Sakiyama
Yukio
Y
Sugihara
Tsuneki
T
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
D018389:Codon, Nonsense; D018388:Codon, Terminator; D009687:Nuclear Proteins; D010750:Phosphoproteins; C105442:TCOF1 protein, human; D001120:Arginine