Journal article
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization
Neurogenetics, Vol.17(1), pp.25-30
01/2016
DOI: 10.1007/s10048-015-0464-y
PMID: 26573021
Abstract
Rearrangement of the actin cytoskeleton is controlled by RhoGTPases which are activated by RhoGEFs. We identified homozygosity for Arg204Trp mutation in the Rho guanidine exchange factor (RhoGEF) PLEKHG2 gene in five patients with profound mental retardation, dystonia, postnatal microcephaly, and distinct neuroimaging pattern. The activity of the mutant PLEKHG2 was significantly decreased, both in basal state and when Gβγ- or lysophosphatidic acid (LPA)-stimulated. SDF1a-stimulated actin polymerization was significantly impaired in patient cells, and this abnormality was duplicated in control cells when PLEKHG2 expression was downregulated. These results underscore the role of PLEKHG2 in actin polymerization and delineate the clinical and radiological findings in PLEKHG2 deficiency.
Details
- Title: Subtitle
- Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization
- Creators
- Simon Edvardson - Pediatric Neurology Unit Hadassah-Hebrew University Medical Center Jerusalem IsraelHaibo Wang - Department of Internal Medicine, Roy J. and Lucille A. Carver College of Medicine University of Iowa Iowa City IA USATalya Dor - Pediatric Neurology Unit Hadassah-Hebrew University Medical Center Jerusalem IsraelOsamah Atawneh - Department of Pediatrics Palestinian Red Cross Society Hospital Hebron PalestineBarak Yaacov - Monique and Jacques Roboh Department of Genetic Research Hadassah-Hebrew University Medical Center Jerusalem IsraelJutta Gartner - Department of Pediatrics and Adolescent Medicine, Division of Pediatric Neurology University Medical Center Göttingen GermanyYuval Cinnamon - Monique and Jacques Roboh Department of Genetic Research Hadassah-Hebrew University Medical Center Jerusalem IsraelSonghai Chen - Department of Internal Medicine, Roy J. and Lucille A. Carver College of Medicine University of Iowa Iowa City IA USAOrly Elpeleg - Monique and Jacques Roboh Department of Genetic Research Hadassah-Hebrew University Medical Center Jerusalem Israel
- Resource Type
- Journal article
- Publication Details
- Neurogenetics, Vol.17(1), pp.25-30
- Publisher
- Springer Berlin Heidelberg; Berlin/Heidelberg
- DOI
- 10.1007/s10048-015-0464-y
- PMID
- 26573021
- ISSN
- 1364-6745
- eISSN
- 1364-6753
- Grant note
- ID0EMIAE104 / Deutsche Forschungsgemeinschaft (DE) (http://dx.doi.org/10.13039/501100001659)
- Language
- English
- Date published
- 01/2016
- Academic Unit
- Iowa Neuroscience Institute; Fraternal Order of Eagles Diabetes Research Center; Neuroscience and Pharmacology; Internal Medicine
- Record Identifier
- 9984040007102771
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