Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
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ABSTRACT:
SUBMITTER: Lalani SR
PROVIDER: S-EPMC4225583 | biostudies-literature | 2014 Nov
REPOSITORIES: biostudies-literature
Publications
Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
Lalani Seema R SR Zhang Jing J Schaaf Christian P CP Brown Chester W CW Magoulas Pilar P Tsai Anne Chun-Hui AC El-Gharbawy Areeg A Wierenga Klaas J KJ Bartholomew Dennis D Fong Chin-To CT Barbaro-Dieber Tina T Kukolich Mary K MK Burrage Lindsay C LC Austin Elise E Keller Kory K Pastore Matthew M Fernandez Fabio F Lotze Timothy T Wilfong Angus A Purcarin Gabriela G Zhu Wenmiao W Craigen William J WJ McGuire Marianne M Jain Mahim M Cooney Erin E Azamian Mahshid M Bainbridge Matthew N MN Muzny Donna M DM Boerwinkle Eric E Person Richard E RE Niu Zhiyv Z Eng Christine M CM Lupski James R JR Gibbs Richard A RA Beaudet Arthur L AL Yang Yaping Y Wang Meng C MC Xia Fan F
American journal of human genetics 20141016 5
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 obse ...[more]
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