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

被引：85

作者：

Lalani, Seema R. ^{[1
]}

Zhang, Jing ^{[1
]}

Schaaf, Christian P. ^{[1
,3
]}

Brown, Chester W. ^{[1
,12
]}

Magoulas, Pilar ^{[1
]}

Tsai, Anne Chun-Hui ^{[4
]}

El-Gharbawy, Areeg ^{[5
,6
]}

Wierenga, Klaas J. ^{[7
]}

Bartholomew, Dennis ^{[8
]}

Fong, Chin-To ^{[9
]}

Barbaro-Dieber, Tina ^{[10
]}

Kukolich, Mary K. ^{[10
]}

Burrage, Lindsay C. ^{[1
]}

Austin, Elise ^{[1
]}

Keller, Kory ^{[4
]}

Pastore, Matthew ^{[8
]}

Fernandez, Fabio ^{[11
,12
]}

Lotze, Timothy ^{[11
,12
]}

Wilfong, Angus ^{[11
,12
]}

Purcarin, Gabriela ^{[14
]}

Zhu, Wenmiao ^{[1
]}

Craigen, William J. ^{[1
]}

McGuire, Marianne ^{[1
]}

Jain, Mahim ^{[1
]}

Cooney, Erin ^{[1
]}

Azamian, Mahshid ^{[1
]}

Bainbridge, Matthew N. ^{[2
]}

Muzny, Donna M. ^{[2
,15
]}

Boerwinkle, Eric ^{[2
,16
]}

Person, Richard E. ^{[1
,15
]}

Niu, Zhiyv ^{[1
,15
]}

Eng, Christine M. ^{[1
,15
]}

Lupski, James R. ^{[1
,2
,12
,13
]}

Gibbs, Richard A. ^{[1
,2
]}

Beaudet, Arthur L. ^{[1
]}

Yang, Yaping ^{[1
,15
]}

Wang, Meng C. ^{[1
,17
]}

Xia, Fan ^{[1
,15
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

[3] Texas Childrens Hosp, Jan & Dan Duncan Neurol Res Inst, Houston, TX 77030 USA

[4] Oregon Hlth & Sci Univ, Dept Mol & Med Genet, Portland, OR 97239 USA

[5] Univ Pittsburgh, Sch Med, Dept Pediat, Pittsburgh, PA 15213 USA

[6] Univ Pittsburgh, Sch Med, Div Med Genet, Pittsburgh, PA 15213 USA

[7] Univ Oklahoma, Hlth Sci Ctr, Dept Pediat, Oklahoma City, OK 73104 USA

[8] Nationwide Childrens Hosp, Div Mol & Human Genet, Columbus, OH 43205 USA

[9] Univ Rochester, Med Ctr, Clin Inherited Metab Dis, Rochester, NY 14642 USA

[10] Cook Childrens Hosp, Ft Worth, TX 76102 USA

[11] Baylor Coll Med, Dept Neurol, Houston, TX 77030 USA

[12] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[13] Texas Childrens Hosp, Dept Pediat, Houston, TX 77030 USA

[14] Univ Oklahoma, Hlth Sci Ctr, Dept Neurol, Oklahoma City, OK 73104 USA

[15] Baylor Coll Med, Whole Genome Lab, Houston, TX 77030 USA

[16] Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, Houston, TX 77030 USA

[17] Baylor Coll Med, Huffington Ctr Aging, Houston, TX 77030 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2014年 / 95卷 / 05期

关键词：

POSTNATAL BRAIN-DEVELOPMENT; ALPHA BINDS; REPEAT; GENES;

D O I：

10.1016/j.ajhg.2014.09.014

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：579 / 583

页数：5

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