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rdf:type |
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lifeskim:mentions |
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pubmed:dateCreated |
2011-7-6
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pubmed:abstractText |
We identified a female patient with mental retardation and sensory hyperarousal. She has a de novo paracentric inversion of one X chromosome with completely skewed inactivation of the normal X chromosome. We aimed to identify whether a single gene or gene region caused her cognitive and behavioural impairment and that of others. Fluorescent in situ hybridisation (FISH) showed that the centromeric breakpoint disrupts a single gene: ARHGEF9 (CDC42 guanine nucleotide exchange factor (GEF) 9). We also found that the levels of the ARHGEF9 transcript from the patient are 10-fold less than those found in control samples. ARHGEF9 encodes a RhoGEF family protein: collybistin (hPEM), which is highly expressed in the brain. Collybistin can regulate actin cytoskeletal dynamics and may also modulate GABAergic and glycinergic neurotransmission through binding of a scaffolding protein, gephyrin, at the synapse. This potential dual role may explain both the mental retardation and hyperarousal observed in our patient.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/21731583-10559246,
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pubmed:language |
eng
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pubmed:journal |
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pubmed:status |
PubMed-not-MEDLINE
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pubmed:issn |
1757-790X
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pubmed:author |
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pubmed:issnType |
Electronic
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pubmed:volume |
2009
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:dateRevised |
2011-8-1
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pubmed:year |
2009
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pubmed:articleTitle |
ARHGEF9 disruption in a female patient is associated with X linked mental retardation and sensory hyperarousal.
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pubmed:affiliation |
Department of Neurology, University of California, San Francisco, California, USA.
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pubmed:publicationType |
Journal Article
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