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

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

doi:10.1016/j.ajhg.2014.09.014

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

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

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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-a, within the critical region. These data implicate causative PURA mutations responsible for the severe neurological phenotypes observed in this syndrome.

Original language	English (US)
Pages (from-to)	579-583
Number of pages	5
Journal	American Journal of Human Genetics
Volume	95
Issue number	5
DOIs	https://doi.org/10.1016/j.ajhg.2014.09.014
State	Published - 2014
Externally published	Yes

ASJC Scopus subject areas

Genetics
Genetics(clinical)

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Lalani, S. R., Zhang, J., Schaaf, C. P., Brown, C. W., Magoulas, P., Tsai, A. C. H., El-Gharbawy, A., Wierenga, K. J., Bartholomew, D., Fong, C. T., Barbaro-Dieber, T., Kukolich, M. K., Burrage, L. C., Austin, E., Keller, K., Pastore, M., Fernandez, F., Lotze, T., Wilfong, A., ... Xia, F. (2014). Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome. American Journal of Human Genetics, 95(5), 579-583. https://doi.org/10.1016/j.ajhg.2014.09.014

Lalani, SR, Zhang, J, Schaaf, CP, Brown, CW, Magoulas, P, Tsai, ACH, El-Gharbawy, A, Wierenga, KJ, Bartholomew, D, Fong, CT, Barbaro-Dieber, T, Kukolich, MK, Burrage, LC, Austin, E, Keller, K, Pastore, M, Fernandez, F, Lotze, T, Wilfong, A, Purcarin, G, Zhu, W, Craigen, WJ, McGuire, M, Jain, M, Cooney, E, Azamian, M, Bainbridge, MN, Muzny, DM, Boerwinkle, E, Person, RE, Niu, Z, Eng, CM, Lupski, JR, Gibbs, RA, Beaudet, AL, Yang, Y, Wang, MC & Xia, F 2014, 'Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome', American Journal of Human Genetics, vol. 95, no. 5, pp. 579-583. https://doi.org/10.1016/j.ajhg.2014.09.014

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

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-a, within the critical region. These data implicate causative PURA mutations responsible for the severe neurological phenotypes observed in this syndrome.",

author = "Lalani, {Seema R.} and Jing Zhang and Schaaf, {Christian P.} and Brown, {Chester W.} and Pilar Magoulas and Tsai, {Anne Chun Hui} and Areeg El-Gharbawy and Wierenga, {Klaas J.} and Dennis Bartholomew and Fong, {Chin To} and Tina Barbaro-Dieber and Kukolich, {Mary K.} and Burrage, {Lindsay C.} and Elise Austin and Kory Keller and Matthew Pastore and Fabio Fernandez and Timothy Lotze and Angus Wilfong and Gabriela Purcarin and Wenmiao Zhu and Craigen, {William J.} and Marianne McGuire and Mahim Jain and Erin Cooney and Mahshid Azamian and Bainbridge, {Matthew N.} and Muzny, {Donna M.} and Eric Boerwinkle and Person, {Richard E.} and Zhiyv Niu and Eng, {Christine M.} and Lupski, {James R.} and Gibbs, {Richard A.} and Beaudet, {Arthur L.} and Yaping Yang and Wang, {Meng C.} and Fan Xia",

year = "2014",

doi = "10.1016/j.ajhg.2014.09.014",

language = "English (US)",

volume = "95",

pages = "579--583",

journal = "American Journal of Human Genetics",

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T1 - Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome

AU - Lalani, Seema R.

AU - Zhang, Jing

AU - Schaaf, Christian P.

AU - Brown, Chester W.

AU - Magoulas, Pilar

AU - Tsai, Anne Chun Hui

AU - El-Gharbawy, Areeg

AU - Wierenga, Klaas J.

AU - Bartholomew, Dennis

AU - Fong, Chin To

AU - Barbaro-Dieber, Tina

AU - Kukolich, Mary K.

AU - Burrage, Lindsay C.

AU - Austin, Elise

AU - Keller, Kory

AU - Pastore, Matthew

AU - Fernandez, Fabio

AU - Lotze, Timothy

AU - Wilfong, Angus

AU - Purcarin, Gabriela

AU - Zhu, Wenmiao

AU - Craigen, William J.

AU - McGuire, Marianne

AU - Jain, Mahim

AU - Cooney, Erin

AU - Azamian, Mahshid

AU - Bainbridge, Matthew N.

AU - Muzny, Donna M.

AU - Boerwinkle, Eric

AU - Person, Richard E.

AU - Niu, Zhiyv

AU - Eng, Christine M.

AU - Lupski, James R.

AU - Gibbs, Richard A.

AU - Beaudet, Arthur L.

AU - Yang, Yaping

AU - Wang, Meng C.

AU - Xia, Fan

PY - 2014

Y1 - 2014

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AB - 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-a, within the critical region. These data implicate causative PURA mutations responsible for the severe neurological phenotypes observed in this syndrome.

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JO - American Journal of Human Genetics

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ER -

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

Abstract

ASJC Scopus subject areas

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