%0 Journal Article %J Am J Hum Genet %D 2014 %T Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. %A Lalani, Seema R %A Zhang, Jing %A Schaaf, Christian P %A Brown, Chester W %A Magoulas, Pilar %A Tsai, Anne Chun-Hui %A El-Gharbawy, Areeg %A Wierenga, Klaas J %A Bartholomew, Dennis %A Fong, Chin-To %A Barbaro-Dieber, Tina %A Kukolich, Mary K %A Burrage, Lindsay C %A Austin, Elise %A Keller, Kory %A Pastore, Matthew %A Fernandez, Fabio %A Lotze, Timothy %A Wilfong, Angus %A Purcarin, Gabriela %A Zhu, Wenmiao %A Craigen, William J %A McGuire, Marianne %A Jain, Mahim %A Cooney, Erin %A Azamian, Mahshid %A Bainbridge, Matthew N %A Muzny, Donna M %A Boerwinkle, Eric %A Person, Richard E %A Niu, Zhiyv %A Eng, Christine M %A Lupski, James R %A Gibbs, Richard A %A Beaudet, Arthur L %A Yang, Yaping %A Wang, Meng C %A Xia, Fan %K Abnormalities, Multiple %K Amino Acid Sequence %K Animals %K Base Sequence %K Caenorhabditis elegans %K Chromosome Deletion %K Chromosome Mapping %K Chromosomes, Human, Pair 5 %K DNA-Binding Proteins %K Humans %K Molecular Sequence Data %K Muscle Hypotonia %K Mutation %K Seizures %K Sequence Analysis, DNA %K Syndrome %K Transcription Factors %X

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.

%B Am J Hum Genet %V 95 %P 579-83 %8 2014 Nov 06 %G eng %N 5 %1 https://www.ncbi.nlm.nih.gov/pubmed/25439098?dopt=Abstract %R 10.1016/j.ajhg.2014.09.014