• Seema R Lalani, Jing Zhang, Christian P Schaaf, Chester W Brown, Pilar Magoulas, Anne Chun-Hui Tsai, Areeg El-Gharbawy, Klaas J Wierenga, Dennis Bartholomew, Chin-To Fong, Tina Barbaro-Dieber, Mary K Kukolich, Lindsay C Burrage, Elise Austin, Kory Keller, Matthew Pastore, Fabio Fernandez, Timothy Lotze, Angus Wilfong, Gabriela Purcarin, Wenmiao Zhu, William J Craigen, Marianne McGuire, Mahim Jain, Erin Cooney, Mahshid Azamian, Matthew N Bainbridge, Donna M Muzny, Eric Boerwinkle, Richard E Person, Zhiyv Niu, Christine M Eng, James R Lupski, Richard A Gibbs, Arthur L Beaudet, Yaping Yang, Meng C Wang, and Fan Xia.
• Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address: seemal@bcm.edu.
• Am. J. Hum. Genet. 2014 Nov 6;95(5):579-83.

Abstract5q31.3 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.Copyright © 2014 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

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