@article{f2601bd889664b7c9fe02dfa62532fc6,
title = "Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome",
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-a, within the critical region. These data implicate causative PURA mutations responsible for the severe neurological phenotypes observed in this syndrome.",
author = "Lalani, {Seema R.} and Jing Zhang and Schaaf, {Christian P.} and Brown, {Chester W.} and Pilar Magoulas and Tsai, {Anne Chun Hui} and Areeg El-Gharbawy and Wierenga, {Klaas J.} and Dennis Bartholomew and Fong, {Chin To} and Tina Barbaro-Dieber and Kukolich, {Mary K.} and Burrage, {Lindsay C.} and Elise Austin and Kory Keller and Matthew Pastore and Fabio Fernandez and Timothy Lotze and Angus Wilfong and Gabriela Purcarin and Wenmiao Zhu and Craigen, {William J.} and Marianne McGuire and Mahim Jain and Erin Cooney and Mahshid Azamian and Bainbridge, {Matthew N.} and Muzny, {Donna M.} and Eric Boerwinkle and Person, {Richard E.} and Zhiyv Niu and Eng, {Christine M.} and Lupski, {James R.} and Gibbs, {Richard A.} and Beaudet, {Arthur L.} and Yaping Yang and Wang, {Meng C.} and Fan Xia",
note = "Funding Information: We are grateful to the families for participating in the study. This study was supported in part by the Doris Duke Foundation and Gillson-Longenbaugh Foundation to S.R.L., by the Joan and Stanford Alexander Family Foundation to C.P.S., and by NIH grants to R.A.G. (U54HG003273), J.R.L. (U54HG006542), M.C.W. (R01AG045183), and L.C.B. and M.J. (T32GM07526). The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from genetic testing offered in the Whole Genome Laboratory and Medical Genetics Laboratories. J.R.L. is a paid consultant for Athena Diagnostics, holds stock ownership in 23andMe and Ion Torrent Systems, and is a coinventor on United States and European patents related to molecular diagnostics. M.N.B. is a founder of Codified Genomics. Publisher Copyright: {\textcopyright} 2014 by The American Society of Human Genetics. All rights reserved.",
year = "2014",
doi = "10.1016/j.ajhg.2014.09.014",
language = "English (US)",
volume = "95",
pages = "579--583",
journal = "American Journal of Human Genetics",
issn = "0002-9297",
publisher = "Cell Press",
number = "5",
}