Treacher Collins syndrome: a clinical and molecular study based on a large series of patients.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Vincent Marie, Geneviève David, Ostertag Agnès, Marlin Sandrine, Lacombe Didier, Martin-Coignard Dominique, Coubes Christine, David Albert, Lyonnet Stanislas, Vilain Catheline, Dieux-Coeslier Anne, Manouvrier Sylvie, Isidor Bertrand, Jacquemont Marie-Line, Julia Sophie, Layet Valérie, Naudion Sophie, Odent Sylvie, Pasquier Laurent, Pelras Sybille, Philip Nicole, Pierquin Geneviève, Prieur Fabienne, Aboussair Nisrine, Attie-Bitach Tania, Baujat Geneviève, Blanchet Patricia, Blanchet Catherine, Dollfus Hélène, Doray Bérénice, Schaefer Elise, Edery Patrick, Giuliano Fabienne, Goldenberg Alice, Goizet Cyril, Guichet Agnès, Herlin Christian, Lambert Laetitia, Leheup Bruno, Martinovic Jelena, Mercier Sandra, Mignot Cyril, Moutard Marie-Laure, Perez Marie-José, Pinson Lucile, Puechberty Jacques, Willems Marjolaine, Randrianaivo Hanitra, Szakszon Kateline, Toutain Annick, Verloes Alain, Vigneron Jacqueline, Sanchez Elodie, Sarda Pierre, Laplanche Jean-Louis, Collet Corinne
Аннотация
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.