학술논문
Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome.
Document Type
Article
Author
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
Source
Subject
*GENETIC mutation
*NEONATAL anemia
*MUSCLE hypotonia
*HEPATIC encephalopathy
*EPILEPSY
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Language
ISSN
0002-9297
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. [ABSTRACT FROM AUTHOR]