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...

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Bibliographic Details
Published in:American journal of medical genetics. Part A 2004-07, Vol.128A (2), p.173-175
Main Authors: Horiuchi, Katsumi, Ariga, Tadashi, Fujioka, Hirotaka, Kawashima, Kunihiro, Yamamoto, Yuhei, Igawa, Hiroharu, Sakiyama, Yukio, Sugihara, Tsuneki
Format: Article
Language:English
Subjects:
Arginine - chemistry
Child, Preschool
Codon, Nonsense
Codon, Terminator - chemistry
Craniosynostoses - genetics
DNA Mutational Analysis
Exons
Facies
Female
Gastroesophageal Reflux - genetics
Gene Deletion
haploinsufficiency
Humans
Mandibulofacial Dysostosis - genetics
Mutation
Nuclear Proteins - genetics
Phosphoproteins - genetics
Polymorphism, Single-Stranded Conformational
Tomography, X-Ray Computed
treacle
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Summary: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. © 2004 Wiley‐Liss, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.30038