کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
2812137 1569299 2007 8 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Disruption of Diacylglycerol Kinase Delta (DGKD) Associated with Seizures in Humans and Mice
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
Disruption of Diacylglycerol Kinase Delta (DGKD) Associated with Seizures in Humans and Mice
چکیده انگلیسی

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.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: - Volume 80, Issue 4, April 2007, Pages 792–799
نویسندگان
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