A Homozygous Mutation in Human PRICKLE1 Causes an Autosomal-Recessive Progressive Myoclonus Epilepsy-Ataxia Syndrome

被引：156

作者：

Bassuk, Alexander G. ^{[3
,4
,5
]}

Wallace, Robyn H. ^{[9
]}

Buhr, Aimee ^{[4
]}

Buller, Andrew R. ^{[3
]}

Afawi, Zaid ^{[10
,11
]}

Shimojo, Masahito ^{[12
]}

Miyata, Shingo ^{[13
]}

Chen, Shan ^{[3
]}

Gonzalez-Alegre, Pedro ^{[6
]}

Griesbach, Hilary L. ^{[7
]}

Wu, Shu ^{[3
]}

Nashelsky, Marcus ^{[8
]}

Vladar, Eszter K. ^{[14
,15
]}

Antic, Dragana ^{[14
,15
]}

Ferguson, Polly J. ^{[3
]}

Cirak, Sebahattin ^{[19
]}

Voit, Thomas ^{[20
]}

Scott, Matthew P. ^{[15
,16
,17
,18
]}

Axelrod, Jeffrey D. ^{[14
]}

Gurnett, Christina ^{[21
]}

Daoud, Azhar S. ^{[22
]}

Kivity, Sara

Neufeld, Miriam Y. ^{[10
,11
]}

Mazarib, Aziz ^{[24
,25
]}

Straussberg, Rachel ^{[23
]}

Walid, Simri ^{[26
]}

Korczyn, Amos D. ^{[27
]}

Slusarski, Diane C. ^{[7
]}

Berkovic, Samuel F. ^{[2
]}

El-Shanti, Hatem I. ^{[1
,28
]}

机构：

[1] Univ Melbourne Austin Hlth, Epilepsy Res Ctr, Heidelberg West, Vic 3161, Australia

[2] Univ Melbourne Austin Hlth, Dept Med, Heidelberg West, Vic 3161, Australia

[3] Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA

[4] Univ Iowa, Grad Program Genet, Iowa City, IA 52242 USA

[5] Univ Iowa, Grad Program Neurosci, Iowa City, IA 52242 USA

[6] Univ Iowa, Dept Neurol, Iowa City, IA 52242 USA

[7] Univ Iowa, Dept Biol, Iowa City, IA 52242 USA

[8] Univ Iowa, Dept Pathol, Iowa City, IA 52242 USA

[9] Univ Queensland, Queensland Brain Inst, Brisbane, Qld 4072, Australia

[10] Tel Aviv Univ, Tel Aviv Sourasky Med Ctr, Dept Neurol, IL-64239 Tel Aviv, Israel

[11] Tel Aviv Univ, Sackler Fac Med, IL-64239 Tel Aviv, Israel

[12] Univ Kentucky, Dept Mol & Cellular Biochem, Lexington, KY 40536 USA

[13] Osaka Univ, Grad Sch Med, Dept Anat & Neurosci, Suita, Osaka 5650871, Japan

[14] Stanford Univ, Sch Med, Dept Pathol, Stanford, CA 94305 USA

[15] Stanford Univ, Sch Med, Dept Dev Biol, Stanford, CA 94305 USA

[16] Stanford Univ, Sch Med, Dept Genet, Stanford, CA 94305 USA

[17] Stanford Univ, Sch Med, Dept Bioengn, Stanford, CA 94305 USA

[18] Stanford Univ, Sch Med, Howard Hughes Med Inst, Stanford, CA 94305 USA

[19] Univ Kinder Klin Essen, Abt Allgemeine Padiat Schwerpunkt Neuropadiat, D-45122 Essen, Germany

[20] Grp Hosp Pitie Salpetriere, Inst Myol, F-75013 Paris, France

[21] Washington Univ, Sch Med, Div Pediat Neurol, Dept Neurol, St Louis, MO 63110 USA

[22] Jordan Univ Sci & Technol, Dept Pediat, Irbid 22110, Jordan

[23] Schneider Childrens Med Ctr Israel, Epilepsy Unit, IL-49202 Petah Tiqwa, Israel

[24] Schneider Childrens Med Ctr Israel, Dept Child Neurol, IL-49202 Petah Tiqwa, Israel

[25] Kupat Holim Clalit, IL-16000 Nazareth, Israel

[26] Western Galilee Hosp, Dept Neurol, IL-22100 Nahariyya, Israel

[27] Tel Aviv Univ, Sieratzki Chair Neurol, IL-69978 Ramat Aviv, Israel

[28] Shafallah Med Genet Ctr, Doha, Qatar

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2008年 / 83卷 / 05期

关键词：

D O I：

10.1016/j.ajhg.2008.10.003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Progressive myoclonus epilepsy (PME) is a syndrome characterized by myoclonic seizures (lightning-like jerks), generalized convulsive seizures, and varying degrees of neurological decline, especially ataxia and dementia. Previously, we characterized three pedigrees of individuals with PME and ataxia, where either clinical features or linkage mapping excluded known PME loci. This report identifies a mutation in PRICKLE1 (also known as RILP for REST/NRSF interacting LIM domain protein) in all three of these pedigrees. The identified PRICKLE1 mutation blocks the PRICKLE1 and REST interaction in vitro and disrupts the normal function of PRICKLE1 in an in vivo zebrafish overexpression system. PRICKLE1 is expressed in brain regions implicated in epilepsy and ataxia in mice and humans, and, to our knowledge, is the first molecule in the noncanonical WNT signaling pathway to be directly implicated in human epilepsy.

引用

页码：572 / 581

页数：10

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