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.
Copyright 2004 Wiley-Liss, Inc.
MeSH terms
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Arginine / chemistry
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Child, Preschool
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Codon, Nonsense*
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Codon, Terminator / chemistry
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Craniosynostoses / genetics*
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DNA Mutational Analysis
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Exons
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Facies
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Female
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Gastroesophageal Reflux / genetics*
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Gene Deletion
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Humans
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Mandibulofacial Dysostosis / genetics*
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Mutation
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Nuclear Proteins / genetics*
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Phosphoproteins / genetics*
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Polymorphism, Single-Stranded Conformational
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Tomography, X-Ray Computed
Substances
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Codon, Nonsense
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Codon, Terminator
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Nuclear Proteins
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Phosphoproteins
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TCOF1 protein, human
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Arginine