Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome | Zendy

Seema R. Lalani | Zendy; Jing Zhang | Zendy; Christian P. Schaaf | Zendy; Chester Brown | Zendy; Pilar Magoulas | Zendy; Anne ChunHui Tsai | Zendy; Areeg ElGharbawy | Zendy; Klaas J. Wierenga | Zendy; Dennis Bartholomew | Zendy; Chin-To Fong | Zendy; Tina BarbaroDieber | Zendy; Mary K. Kukolich | Zendy; Lindsay C. Burrage | Zendy; Elise G. Austin | Zendy; Kory Keller | Zendy; Matthew Pastore | Zendy; Fabio Fernandez | Zendy; Timothy Lotze | Zendy; Angus A. Wilfong | Zendy; Gabriela Purcarin | Zendy; Wenmiao Zhu | Zendy; William J. Craigen | Zendy; Marianne McGuire | Zendy; Mahim Jain | Zendy; Erin Cooney | Zendy; Mahshid S. Azamian | Zendy; Matthew N. Bainbridge | Zendy; Donna M. Muzny | Zendy; Eric Boerwinkle | Zendy; Richard Person | Zendy; Zhiyv Niu | Zendy; Christine M. Eng | Zendy; James R. Lupski | Zendy; Richard A. Gibbs | Zendy; Arthur L. Beaudet | Zendy; Yaping Yang | Zendy; Meng C. Wang | Zendy; Fan Xia | Zendy

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Mutations in PURA Cause Profound Neonatal Hypotonia, Seizures, and Encephalopathy in 5q31.3 Microdeletion Syndrome

Author(s) -

Seema R. Lalani,

Jing Zhang,

Christian P. Schaaf,

Chester Brown,

Pilar Magoulas,

Anne ChunHui Tsai,

Areeg ElGharbawy,

Klaas J. Wierenga,

Dennis Bartholomew,

Chin-To Fong,

Tina BarbaroDieber,

Mary K. Kukolich,

Lindsay C. Burrage,

Elise G. Austin,

Kory Keller,

Matthew Pastore,

Fabio Fernandez,

Timothy Lotze,

Angus A. Wilfong,

Gabriela Purcarin,

Wenmiao Zhu,

William J. Craigen,

Marianne McGuire,

Mahim Jain,

Erin Cooney,

Mahshid S. Azamian,

Matthew N. Bainbridge,

Donna M. Muzny,

Eric Boerwinkle,

Richard Person,

Zhiyv Niu,

Christine M. Eng,

James R. Lupski,

Richard A. Gibbs,

Arthur L. Beaudet,

Yaping Yang,

Meng C. Wang,

Fan Xia

Publication year - 2014

Publication title -

the american journal of human genetics

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 6.661

H-Index - 302

eISSN - 1537-6605

pISSN - 0002-9297

DOI - 10.1016/j.ajhg.2014.09.014

Subject(s) - hypotonia , microdeletion syndrome , epilepsy , medicine , genetics , encephalopathy , phenotype , gene , pediatrics , bioinformatics , biology , psychiatry

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.

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