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

doi:10.1016/j.ajhg.2014.09.014

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Article

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

American journal of human genetics - 6 Nov 2014

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, Zhu Wenmiao, Craigen William J, McGuire Marianne, Jain Mahim, Cooney Erin, Azamian Mahshid, Bainbridge Matthew N, Muzny Donna M, Boerwinkle Eric, Person Richard E, Niu Zhiyv, Eng Christine M, Lupski James R, Gibbs Richard A, Beaudet Arthur L, Yang Yaping, Wang Meng C, Xia Fan

Abstract excerpt

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...

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PMID: 25439098
DOI: 10.1016/j.ajhg.2014.09.014
PMCID: PMC4225583

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Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.PMID 25439098Read ↗

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