NDLI: A Defect in the Ionotropic Glutamate Receptor 6 Gene (GRIK2) Is Associated with Autosomal Recessive Mental Retardation

Content Provider	PubMed Central
Author	Mahdi, Motazacker Md. Rost, Benjamin Rainer Tim, Hucho Masoud, Garshasbi Kahrizi, 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
Copyright Year	2007
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.
Related Links	http://dx.doi.org/10.1086/521275
Ending Page	798
Page Count	7
Starting Page	792
File Format	PDF
ISSN	00029297
e-ISSN	15376605
Journal	American Journal of Human Genetics
Issue Number	4
Volume Number	81
Language	English
Publisher	American Society of Human Genetics
Publisher Date	2007-10-01
Access Restriction	Open
Rights Holder	American Society of Human Genetics
Subject Keyword	Genetics(clinical) Genetics Research in Higher Education
Content Type	Text
Resource Type	Article
Subject	Genetics Genetics (clinical)

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1	Ministry of Education (GoI), Department of Higher Education	Sanctioning Authority	https://www.education.gov.in/ict-initiatives
2	Indian Institute of Technology Kharagpur	Host Institute of the Project: The host institute of the project is responsible for providing infrastructure support and hosting the project	https://www.iitkgp.ac.in
3	National Digital Library of India Office, Indian Institute of Technology Kharagpur	The administrative and infrastructural headquarters of the project	Dr. B. Sutradhar bsutra@ndl.gov.in
4	Project PI / Joint PI	Principal Investigator and Joint Principal Investigators of the project	Dr. B. Sutradhar bsutra@ndl.gov.in Prof. Saswat Chakrabarti will be added soon
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