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  A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation.

Motazacker, M. M., Rost, B. R., Hucho, T., Garshasb, M., Kahriz, K., Ullmann, R., et al. (2007). A defect in the ionotropic glutamate receptor 6 gene (GRIK2) is associated with autosomal recessive mental retardation. The American Journal of Human Genetics: AJHG, 81(4), 792-798. doi:10.1086/521275.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8154-5 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-0010-8155-3
Genre: Journal Article
Alternative Title : Am. J. Hum. Genet.

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 Creators:
Motazacker, Mohammad Mahdi1, Author
Rost, Benjamin Rainer, Author
Hucho, Tim2, Author              
Garshasb, Masoud1, Author
Kahriz, Kimia, Author
Ullmann, Reinhard3, Author              
Abedini, Seyedeh Sedigheh, Author
Nieh, Sahar Esmaeeli1, Author
Amini, Saeid Hosseini, Author
Goswami, Chandan4, Author              
Tzschach, Andreas4, Author              
Jensen, Lars Riff5, Author              
Schmitz, Dietmar, Author
Ropers, Hans-Hilger4, Author              
Najmabadi, Hossein, Author
Kuss, Andreas Walter1, Author
Affiliations:
1Max Planck Society, ou_persistent13              
2Signal Transduction in Mental Retardation and Pain (Tim Hucho), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479646              
3Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1479645              
4Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              
5Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society, ou_1433549              

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 Abstract: 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.

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Language(s): eng - English
 Dates: 2007-10-01
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
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Title: The American Journal of Human Genetics : AJHG
  Alternative Title : Am. J. Hum. Genet.
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 81 (4) Sequence Number: - Start / End Page: 792 - 798 Identifier: ISSN: 0002-9297