West syndrome caused by ST3Gal-III deficiency

被引：60

作者：

Edvardson, Simon ^{[1
]}

Baumann, Anna-Maria ^{[2
]}

Muehlenhoff, Martina ^{[2
]}

Stephan, Oliver ^{[3
]}

Kuss, Andreas W. ^{[4
,5
]}

Shaag, Avraham ^{[1
]}

He, Liqun ^{[3
]}

Zenvirt, Shamir ^{[1
]}

Tanzi, Raimo ^{[3
]}

Gerardy-Schahn, Rita ^{[2
]}

Elpeleg, Orly ^{[1
]}

机构：

[1] Hebrew Univ Jerusalem, Dept Genet & Metab Dis, Med Ctr, Monique & Jacques Roboh Dept Genet Res, IL-91120 Jerusalem, Israel

[2] Hannover Med Sch, Inst Cellular Chem, Hannover, Germany

[3] Life Technol GmbH, Darmstadt, Germany

[4] Ernst Moritz Arndt Univ Greifswald, Inst Human Genet, Greifswald, Germany

[5] Ernst Moritz Arndt Univ Greifswald, Inst Genet & Funct Gen, Greifswald, Germany

来源：

EPILEPSIA | 2013年 / 54卷 / 02期

关键词：

West syndrome; ST3GAL3; ST3Gal-III; Exome sequencing; INFANTILE SPASMS; SIALYLTRANSFERASE; CLASSIFICATION; SIALYLMOTIF;

D O I：

10.1111/epi.12050

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

West syndrome consists of infantile spasms, hypsarrhythmia, and developmental arrest. Most patients remain mentally retarded and many develop Lennox-Gastaut syndrome. Using homozygosity mapping followed by exome sequencing we identified an ST3GAL3 mutation in three infants with West syndrome. ST3GAL3 encodes a sialyltransferase involved in the biosynthesis of sialyl-Lewis epitopes on cell surfaceexpressed glycoproteins. The mutation affected an essential sialyl-motif and abolished enzymatic activity. Abnormalities in proteins involved in forebrain -aminobutyric acid (GABA)ergic synaptic growth and function were recently proposed to account for infantile spasms. Dysfunctional ST3GAL3 may thus result in perturbation of the posttranslational sialylation of proteins in these pathways.

引用

页码：e24 / e27

页数：4

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