作者
Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau-Them, Eric Richard, Alice Goldenberg, Tomi L Toler, Thomas Guignard, Vincent Gatinois, Marie Vincent, Catherine Blanchet, Anne Boland, Marie Thérèse Bihoreau, Jean-Francois Deleuze, Robert Olaso, Walton Nephi, Hermann-Josef Lüdecke, Joke BGM Verheij, Florence Moreau-Lenoir, Françoise Denoyelle, Jean-Baptiste Rivière, Jean-Louis Laplanche, Marcia Willing, Guillaume Captier, Florence Apparailly, Dagmar Wieczorek, Corinne Collet, Farida Djouad, David Geneviève
发表日期
2020/3
期刊
Genetics in Medicine
卷号
22
期号
3
页码范围
547-556
出版商
Nature Publishing Group US
简介
Purpose
Treacher Collins syndrome (TCS) is a rare autosomal dominant mandibulofacial dysostosis, with a prevalence of 0.2–1/10,000. Features include bilateral and symmetrical malar and mandibular hypoplasia and facial abnormalities due to abnormal neural crest cell (NCC) migration and differentiation. To date, three genes have been identified: TCOF1, POLR1C, and POLR1D. Despite a large number of patients with a molecular diagnosis, some remain without a known genetic anomaly.
Methods
We performed exome sequencing for four individuals with TCS but who were negative for pathogenic variants in the known causative genes. The effect of the pathogenic variants was investigated in zebrafish.
Results
We identified three novel pathogenic variants in POLR1B. Knockdown of polr1b in zebrafish induced an abnormal craniofacial phenotype mimicking TCS that was associated with altered ribosomal gene …
学术搜索中的文章
E Sanchez, B Laplace-Builhé, FT Mau-Them… - Genetics in Medicine, 2020