title: Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations.
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.
authors.affiliation: Unité de Chirurgie Craniofaciale, Service de Neurochirurgie, Centre de Référence National Dysostoses Crâniofaciales, Hôpital Necker, Paris, France.
authors.forename: Federico
authors.initials: F
authors.lastname: di Rocco
authors.affiliation: Génétique Clinique, INSERM U781, Université Paris-Descartes-Sorbonne Paris cité, Institut Imagine, Hôpital Necker, Paris, France.
authors.forename: Geneviève
authors.initials: G
authors.lastname: Baujat
authors.affiliation: Unité de Chirurgie Craniofaciale, Service de Neurochirurgie, Centre de Référence National Dysostoses Crâniofaciales, Hôpital Necker, Paris, France.
authors.forename: Eric
authors.initials: E
authors.lastname: Arnaud
authors.affiliation: Unité de Chirurgie Craniofaciale, Service de Neurochirurgie, Centre de Référence National Dysostoses Crâniofaciales, Hôpital Necker, Paris, France.
authors.forename: Dominique
authors.initials: D
authors.lastname: Rénier
authors.affiliation: Unité Fonctionnelle de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Pôle B2P, Hôpital Lariboisière, Paris, France.
authors.forename: Jean-Louis
authors.initials: JL
authors.lastname: Laplanche
authors.affiliation: Génétique Clinique, INSERM U781, Université Paris-Descartes-Sorbonne Paris cité, Institut Imagine, Hôpital Necker, Paris, France.
authors.forename: Valérie Cormier
authors.initials: VC
authors.lastname: Daire
authors.affiliation: Unité Fonctionnelle de Génétique Moléculaire, Service de Biochimie et Biologie Moléculaire, Pôle B2P, Hôpital Lariboisière, Paris, France.
authors.forename: Corinne
authors.initials: C
authors.lastname: Collet
mesh_terms: D000168:Acrocephalosyndactylia / Q000235:genetics; D051792:Basic Helix-Loop-Helix Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D009687:Nuclear Proteins / Q000235:genetics; D010375:Pedigree; D051498:Receptor, Fibroblast Growth Factor, Type 3 / Q000235:genetics; D013580:Synostosis / Q000235:genetics* / Q000473:pathology; D051879:Twist-Related Protein 1 / Q000235:genetics
chemical_list: D051792:Basic Helix-Loop-Helix Proteins; D009687:Nuclear Proteins; D051498:Receptor, Fibroblast Growth Factor, Type 3; D051879:Twist-Related Protein 1; C103173:TWIST1 protein, human; C073366:TCF12 protein, human; C496365:FGFR3 protein, human
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