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

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

doi:10.1086/521275

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

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Motazacker, Mohammad Mahdi
Max Planck Society;

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Hucho, Tim
Signal 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;

Garshasb, Masoud
Max Planck Society;

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Ullmann, Reinhard
Molecular Cytogenetics (Reinhard Ullmann), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Nieh, Sahar Esmaeeli
Max Planck Society;

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Goswami, Chandan
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Tzschach, Andreas
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Jensen, Lars Riff
Dept. of Computational Molecular Biology (Head: Martin Vingron), Max Planck Institute for Molecular Genetics, Max Planck Society;

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Ropers, Hans-Hilger
Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society;

Kuss, Andreas Walter
Max Planck Society;

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Citation

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.

Cite as: https://hdl.handle.net/11858/00-001M-0000-0010-8154-5

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.