| Literature DB >> 25439098 |
Seema R Lalani1, Jing Zhang2, Christian P Schaaf3, Chester W Brown4, Pilar Magoulas2, Anne Chun-Hui Tsai5, Areeg El-Gharbawy6, Klaas J Wierenga7, Dennis Bartholomew8, Chin-To Fong9, Tina Barbaro-Dieber10, Mary K Kukolich10, Lindsay C Burrage2, Elise Austin2, Kory Keller5, Matthew Pastore8, Fabio Fernandez11, Timothy Lotze11, Angus Wilfong11, Gabriela Purcarin12, Wenmiao Zhu2, William J Craigen2, Marianne McGuire2, Mahim Jain2, Erin Cooney2, Mahshid Azamian2, Matthew N Bainbridge13, Donna M Muzny14, Eric Boerwinkle15, Richard E Person16, Zhiyv Niu16, Christine M Eng16, James R Lupski17, Richard A Gibbs18, Arthur L Beaudet2, Yaping Yang16, Meng C Wang19, Fan Xia20.
Abstract
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.Entities:
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Year: 2014 PMID： 25439098 PMCID： PMC4225583 DOI： 10.1016/j.ajhg.2014.09.014
Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025