Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.

Mark McIntosh,'s picture
PubMed URL: 
http://www.ncbi.nlm.nih.gov/pubmed/25439098
Author: 
Xia F
Author List: 
Lalani SR
Zhang J
Schaaf CP
Brown CW
Magoulas P
Tsai AC
El-Gharbawy A
Wierenga KJ
Bartholomew D
Fong CT
Barbaro-Dieber T
Kukolich MK
Burrage LC
Austin E
Keller K
Pastore M
Fernandez F
Lotze T
Wilfong A
Purcarin G
Zhu W
Craigen WJ
McGuire M
Jain M
Cooney E
Azamian M
Bainbridge MN
Muzny DM
Boerwinkle E
Person RE
Niu Z
Eng CM
Lupski JR
Gibbs RA
Beaudet AL
Yang Y
Wang MC
Xia F
Journal: 
Am J Hum Genet
PubMed ID: 
25439098
Pagination: 
579-83
Volume: 
95
Issue: 
5
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.
Published Date: 
November, 2014

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