Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations

• Published in: European journal of human genetics : EJHG Vol. 22; no. 12; pp. 1413 - 1416
• Main Authors: di Rocco, Federico, Baujat, Geneviève, Arnaud, Eric, Rénier, Dominique, Laplanche, Jean-Louis, Daire, Valérie Cormier, Collet, Corinne
• Format: Journal Article
• Language: English
• Published: England Nature Publishing Group 01-12-2014
• Subjects: Acrocephalosyndactylia - genetics; Age; Basic Helix-Loop-Helix Transcription Factors - genetics; Deoxyribonucleic acid; DNA; DNA Mutational Analysis; Dysostosis; Families & family life; Female; Fibroblast growth factor receptors; Genes; Genetics; Growth factors; Hearing loss; Humans; Infant; Male; Molecular Sequence Data; Mutation; Nuclear Proteins - genetics; Pedigree; Receptor, Fibroblast Growth Factor, Type 3 - genetics; Saethre-Chotzen syndrome; Short Report; Surgery; Syndactyly; Synostosis - genetics; Synostosis - pathology; Twist-Related Protein 1 - genetics; France
• ISSN: 1018-4813; 1476-5438
• DOI: 10.1038/ejhg.2014.57

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.