Lalani Seema R, Zhang Jing, Schaaf Christian P, Brown Chester W, Magoulas Pilar, Tsai Anne Chun-Hui, El-Gharbawy Areeg, Wierenga Klaas J, Bartholomew Dennis, Fong Chin-To, Barbaro-Dieber Tina, Kukolich Mary K, Burrage Lindsay C, Austin Elise, Keller Kory, Pastore Matthew, Fernandez Fabio, Lotze Timothy, Wilfong Angus, Purcarin Gabriela, Zhu Wenmiao, Craigen William J, McGuire Marianne, Jain Mahim, Cooney Erin, Azamian Mahshid, Bainbridge Matthew N, Muzny Donna M, Boerwinkle Eric, Person Richard E, Niu Zhiyv, Eng Christine M, Lupski James R, Gibbs Richard A, Beaudet Arthur L, Yang Yaping, Wang Meng C, Xia Fan
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Am J Hum Genet. 2014 Nov 6;95(5):579-83. doi: 10.1016/j.ajhg.2014.09.014. Epub 2014 Oct 16.
5q31.3 microdeletion syndrome is characterized by neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay, and the minimal critical deletion interval harbors three genes. We describe 11 individuals with clinical features of 5q31.3 microdeletion syndrome and de novo mutations in PURA, encoding transcriptional activator protein Pur-α, within the critical region. These data implicate causative PURA mutations responsible for the severe neurological phenotypes observed in this syndrome.
5q31.3微缺失综合征的特征为新生儿肌张力减退、伴有或不伴有癫痫的脑病以及严重发育迟缓，最小关键缺失区间包含三个基因。我们描述了11例具有5q31.3微缺失综合征临床特征且关键区域内编码转录激活蛋白Pur-α的PURA基因发生新发突变的个体。这些数据表明，PURA突变是导致该综合征中观察到的严重神经学表型的原因。
