title: Treacher Collins syndrome: New insights from animal models.
abstract: Treacher Collins syndrome (TCS, OMIM: 154500), an autosomal-dominant craniofacial developmental syndrome that occurs in 1 out of every 50,000 live births, is characterized by craniofacial malformation. Mutations in TCOF1, POLR1C, or POLR1D have been identified in affected individuals. In addition to established mouse models, zebrafish models have recently emerged as an valuable method to study facial disease. In this report, we summarized the two updated articles working on the pathogenesis of the newly identified polr1c and polr1d TCS mutations (Lau et al., 2016; Noack Watt et al., 2016) and discussed the possibility of using the anti-oxidants to prevent or rescue the TCS facial phenotype (Sakai et al., 2016). Taken together, this article provides an update on the disease from basic information to pathogenesis, and further summarizes the suggested therapies from recent laboratory research.
authors: Faculty of Agriculture, Kyushu University, Fukuoka, Japan. Electronic address: kftse@agr.kyushu-u.ac.jp.
authors: William Ka Fai
authors: WK
authors: Tse
mesh_terms: D000818:Animals; D004195:Disease Models, Animal; D006801:Humans; D008342:Mandibulofacial Dysostosis / Q000188:drug therapy / Q000209:etiology / Q000378:metabolism; D058990:Molecular Targeted Therapy
keywords: Craniofacial malformation; POLR1C; POLR1D; TCOF1; Translational research