Abstract
TCF12 mutations have been reported very recently in coronal synostosis. We report several cases of familial coronal synostosis among four families harbouring novel TCF12 mutations. We observed a broad interfamilial phenotypic spectrum with features overlapping with the Saethre-Chotzen syndrome. TCF12 molecular testing should be considered in patients with unilateral- or bilateral-coronal synostosis associated or not with syndactyly, after having excluded mutations in the TWIST1 gene and the p.Pro250Arg mutation in FGFR3.
MeSH terms
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Acrocephalosyndactylia / genetics
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Basic Helix-Loop-Helix Transcription Factors / genetics*
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DNA Mutational Analysis
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Female
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Humans
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Infant
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Male
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Molecular Sequence Data
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Mutation*
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Nuclear Proteins / genetics
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Pedigree
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Receptor, Fibroblast Growth Factor, Type 3 / genetics
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Synostosis / genetics*
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Synostosis / pathology
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Twist-Related Protein 1 / genetics
Substances
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Basic Helix-Loop-Helix Transcription Factors
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Nuclear Proteins
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TWIST1 protein, human
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Twist-Related Protein 1
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TCF12 protein, human
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FGFR3 protein, human
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Receptor, Fibroblast Growth Factor, Type 3