Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations
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. TCF1...
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| Published in: | European journal of human genetics : EJHG Vol. 22; no. 12; pp. 1413 - 1416 |
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| Main Authors: | , , , , , , |
| Format: | Journal Article |
| Language: | English |
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Nature Publishing Group
01-12-2014
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| 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. |
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| AbstractList | 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. 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 . |
| Author | di Rocco, Federico Rénier, Dominique Laplanche, Jean-Louis Baujat, Geneviève Collet, Corinne Arnaud, Eric Daire, Valérie Cormier |
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| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/24736737$$D View this record in MEDLINE/PubMed |
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| Cites_doi | 10.1038/ng.2531 10.1007/s00381-012-1781-1 10.3171/jns.2000.92.4.0631 10.1038/ejhg.2010.235 10.1038/sj.ejhg.5201507 10.1542/peds.2009-3491 10.1097/PRS.0b013e3181a3f391 |
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| References | 10761652 - J Neurosurg. 2000 Apr;92(4):631-6 23354436 - Nat Genet. 2013 Mar;45(3):304-7 20643727 - Pediatrics. 2010 Aug;126(2):e391-400 19483581 - Plast Reconstr Surg. 2009 Jun;123(6):1801-10 16251895 - Eur J Hum Genet. 2006 Jan;14(1):39-48 21248745 - Eur J Hum Genet. 2011 Apr;19(4):369-76 9042914 - Am J Hum Genet. 1997 Mar;60(3):555-64 22872241 - Childs Nerv Syst. 2012 Sep;28(9):1301-10 D Johnson (BFejhg201457_CR4) 2011; 19 W Lattanzi (BFejhg201457_CR8) 2012; 28 VP Sharma (BFejhg201457_CR6) 2013; 45 AO Wilkie (BFejhg201457_CR3) 2010; 126 W Kress (BFejhg201457_CR5) 2006; 14 M Muenke (BFejhg201457_CR1) 1997; 60 D Renier (BFejhg201457_CR2) 2000; 92 RH Woods (BFejhg201457_CR7) 2009; 123 |
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| Snippet | TCF12 mutations have been reported very recently in coronal synostosis. We report several cases of familial coronal synostosis among four families harbouring... TCF12 mutations have been reported very recently in coronal synostosis. We report several cases of familial coronal synostosis among four families harbouring... |
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| SubjectTerms | 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 |
| Title | Clinical spectrum and outcomes in families with coronal synostosis and TCF12 mutations |
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