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Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.

Marie Vincent David Geneviève Agnès Ostertag Sandrine Marlin Didier Lacombe 1 Dominique Martin-Coignard Christine Coubes Albert David Stanislas Lyonnet 2 Catheline Vilain Anne Dieux-Coeslier 3 Sylvie Manouvrier 4 Bertrand Isidor 5 Marie-Line Jacquemont Sophie Julia 6 Valérie Layet 7 Sophie Naudion Sylvie Odent 8 Laurent Pasquier 8 Sybille Pelras Nicole Philip 9 Geneviève Pierquin 10 Fabienne Prieur Nisrine Aboussair Tania Attie-Bitach 11, 12 Geneviève Baujat 13 Patricia Blanchet 14 Catherine Blanchet Hélène Dollfus 15 Bérénice Doray 16 Elise Schaefer 16 Patrick Edery 17 Fabienne Giuliano Alice Goldenberg Cyril Goizet 1 Agnès Guichet 18 Christian Herlin Laetitia Lambert 19 Bruno Leheup 20, 21 Jelena Martinovic 22 Sandra Mercier Cyril Mignot 23, 24 Marie-Laure Moutard Marie-José Perez Lucile Pinson 25 Jacques Puechberty 26 Marjolaine Willems 13, 12 Hanitra Randrianaivo Kateline Szaskon Annick Toutain 27 Alain Verloes 28, 29 Jacqueline Vigneron 30 Elodie Sanchez Pierre Sarda 31 Jean-Louis Laplanche Corinne Collet
Abstract : Purpose - Treacher Collins/Franceschetti syndrome (TCS; OMIM 154500) is a disorder of craniofacial development belonging to the heterogeneous group of mandibulofacial dysostoses. TCS is classically characterized by bilateral mandibular and malar hypoplasia, downward-slanting palpebral fissures, and microtia. To date, three genes have been identified in TCS:,TCOF1, POLR1D, and POLR1C. Methods - We report a clinical and extensive molecular study, including TCOF1, POLR1D, POLR1C, and EFTUD2 genes, in a series of 146 patients with TCS. Phenotype-genotype correlations were investigated for 19 clinical features, between TCOF1 and POLR1D, and the type of mutation or its localization in the TCOF1 gene. Results - We identified 92/146 patients (63%) with a molecular anomaly within TCOF1, 9/146 (6%) within POLR1D, and none within POLR1C. Among the atypical negative patients (with intellectual disability and/or microcephaly), we identified four patients carrying a mutation in EFTUD2 and two patients with 5q32 deletion encompassing TCOF1 and CAMK2A in particular. Congenital cardiac defects occurred more frequently among patients with TCOF1 mutation (7/92, 8%) than reported in the literature. Conclusion - Even though TCOF1 and POLR1D were associated with extreme clinical variability, we found no phenotype-genotype correlation. In cases with a typical phenotype of TCS, 6/146 (4%) remained with an unidentified molecular defect.
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Submitted on : Monday, March 23, 2015 - 2:48:13 PM
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Marie Vincent, David Geneviève, Agnès Ostertag, Sandrine Marlin, Didier Lacombe, et al.. Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.. Genetics in Medicine, Nature Publishing Group, 2016, 18 (1), pp.49-56. ⟨10.1038/gim.2015.29⟩. ⟨hal-01134364⟩



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