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          Institute: MPI für molekulare Genetik     Collection: Department of Human Molecular Genetics     Display Documents



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ID: 334559.0, MPI für molekulare Genetik / Department of Human Molecular Genetics
A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.
Authors:Motazacker, Mohammad Mahdi; Rost, Benjamin Rainer; Hucho, Tim; Garshasb, Masoud; Kahriz, Kimia; Ullmann, Reinhard; Abedini, Seyedeh Sedigheh; Nieh, Sahar Esmaeeli; Amini, Saeid Hosseini; Goswami, Chandan; Tzschach, Andreas; Jensen, Lars Riff; Schmitz, Dietmar; Ropers, Hans-Hilger; Najmabadi, Hossein; Kuss, Andreas Walter
Language:English
Research Context:Report
Date of Publication (YYYY-MM-DD):2007-10-01
Title of Journal:The American Journal of Human Genetics : AJHG
Journal Abbrev.:Am. J. Hum. Genet.
Volume:81
Issue / Number:4
Start Page:792
End Page:798
Copyright:© 2007 The American Society of Human Genetics. All rights reserved.
Review Status:not specified
Audience:Experts Only
Abstract / Description:Nonsyndromic mental retardation is one of the most important unresolved problems in genetic health care. Autosomal forms are far more common than X-linked forms, but, in contrast to the latter, they are still largely unexplored. Here, we report a complex mutation in the ionotropic glutamate receptor 6 gene (GRIK2, also called “GLUR6”) that cosegregates with moderate-to-severe nonsyndromic autosomal recessive mental retardation in a large, consanguineous Iranian family. The predicted gene product lacks the first ligand-binding domain, the adjacent transmembrane domain, and the putative pore loop, suggesting a complete loss of function of the GLUK6 protein, which is supported by electrophysiological data. This finding provides the first proof that GLUK6 is indispensable for higher brain functions in humans, and future studies of this and other ionotropic kainate receptors will shed more light on the pathophysiology of mental retardation.
Comment of the Author/Creator:Address for correspondence and reprints: Andreas Walter Kuss, Department of Human Molecular Genetics, Max Planck Institute for Molecular Genetics, Ihnestrasse 73, D-14195, Germany
External Publication Status:published
Document Type:Article
Version Comment:Automatic journal name synchronization
Communicated by:Hans-Hilger Ropers
Affiliations:MPI für molekulare Genetik
External Affiliations:1.Neuroscience Research Centre, Charité Universitätsmedizin Berlin, Berlin, Germany;
2.Genetics Research Centre, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.
Identifiers:ISSN:0002-9297
DOI:10.1086/521275
URL:http://download.ajhg.org/AJHG/pdf/PIIS000292970763...
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