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Disruption of diacylglycerol kinase delta (DGKD) associated with seizures in humans and mice

Official URL:https://doi.org/10.1086/513019
PubMed:View item in PubMed
Creators Name:Leach, N.T. and Sun, Y. and Michaud, S. and Zheng, Y. and Ligon, K.L. and Ligon, A.H. and Sander, T. and Korf, B.R. and Lu, W. and Harris, D.J. and Gusella, J.F. and Maas, R.L. and Quade, B.J. and Cole, A.J. and Kelz, M.B. and Morton, C.C.
Journal Title:American Journal of Human Genetics
Journal Abbreviation:Am J Hum Genet
Volume:80
Number:4
Page Range:792-799
Date:April 2007
Keywords:2 Pair Human Chromosomes, Chromosome Mapping, Diacylglycerol Kinase, Electroencephalography, Fluorescence In Situ Hybridization, Genetic Predisposition to Disease, Genetic Translocation, Multiple Abnormalities, Seizures, Animals, Mice
Abstract:We report a female patient with a de novo balanced translocation, 46,X,t(X;2)(p11.2;q37)dn, who exhibits seizures, capillary abnormality, developmental delay, infantile hypotonia, and obesity. The 2q37 breakpoint observed in association with the seizure phenotype is of particular interest, because it lies near loci implicated in epilepsy in humans and mice. Fluorescence in situ hybridization mapping of the translocation breakpoints showed that no known genes are disrupted at Xp11.2, whereas diacylglycerol kinase delta (DGKD) is disrupted at 2q37. Expression studies in Drosophila and mouse suggest that DGKD is involved in central nervous system development and function. Electroencephalographic assessment of Dgkd mutant mice revealed abnormal epileptic discharges and electrographic seizures in three of six homozygotes. These findings implicate DGKD disruption by the t(X;2)(p11.2;q37)dn in the observed phenotype and support a more general role for DGKD in the etiology of seizures.
ISSN:0002-9297
Publisher:University of Chicago Press (U.S.A.)
Item Type:Article

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