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

Research output: Contribution to journal › Article › peer-review

73 Scopus citations

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)

Access to Document

10.1016/j.ajhg.2014.09.014

Cite this

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

@article{f2601bd889664b7c9fe02dfa62532fc6,

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",

note = "Funding Information: We are grateful to the families for participating in the study. This study was supported in part by the Doris Duke Foundation and Gillson-Longenbaugh Foundation to S.R.L., by the Joan and Stanford Alexander Family Foundation to C.P.S., and by NIH grants to R.A.G. (U54HG003273), J.R.L. (U54HG006542), M.C.W. (R01AG045183), and L.C.B. and M.J. (T32GM07526). The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from genetic testing offered in the Whole Genome Laboratory and Medical Genetics Laboratories. J.R.L. is a paid consultant for Athena Diagnostics, holds stock ownership in 23andMe and Ion Torrent Systems, and is a coinventor on United States and European patents related to molecular diagnostics. M.N.B. is a founder of Codified Genomics. Publisher Copyright: {\textcopyright} 2014 by The American Society of Human Genetics. All rights reserved.",

year = "2014",

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

language = "English (US)",

volume = "95",

pages = "579--583",

journal = "American Journal of Human Genetics",

issn = "0002-9297",

publisher = "Cell Press",

number = "5",

}

TY - JOUR

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

N1 - Funding Information: We are grateful to the families for participating in the study. This study was supported in part by the Doris Duke Foundation and Gillson-Longenbaugh Foundation to S.R.L., by the Joan and Stanford Alexander Family Foundation to C.P.S., and by NIH grants to R.A.G. (U54HG003273), J.R.L. (U54HG006542), M.C.W. (R01AG045183), and L.C.B. and M.J. (T32GM07526). The Department of Molecular and Human Genetics at Baylor College of Medicine derives revenue from genetic testing offered in the Whole Genome Laboratory and Medical Genetics Laboratories. J.R.L. is a paid consultant for Athena Diagnostics, holds stock ownership in 23andMe and Ion Torrent Systems, and is a coinventor on United States and European patents related to molecular diagnostics. M.N.B. is a founder of Codified Genomics. Publisher Copyright: © 2014 by The American Society of Human Genetics. All rights reserved.

PY - 2014

Y1 - 2014

N2 - 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.

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.

UR - http://www.scopus.com/inward/record.url?scp=84922329183&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84922329183&partnerID=8YFLogxK

U2 - 10.1016/j.ajhg.2014.09.014

DO - 10.1016/j.ajhg.2014.09.014

M3 - Article

C2 - 25439098

AN - SCOPUS:84922329183

SN - 0002-9297

VL - 95

SP - 579

EP - 583

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 5

ER -

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

Abstract

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this