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Article

Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.

Journal of human genetics - 1 Aug 2011

Shimojima Keiko, Sugawara Midori, Shichiji Minobu, Mukaida Souichi, Takayama Rumiko, Imai Katsumi, Yamamoto Toshiyuki

Abstract excerpt

Microarray-based comparative genomic hybridization analysis identified a 737-kb microdeletion of Xq11.1, including the cell division cycle 42 guanine nucleotide exchange factor (GEF)-9 gene (ARHGEF9), encoding collybistin, which has a pivotal role in formation of postsynaptic glycine and γ-aminobutyric acid receptor clusters, in a male patient with severe mental retardation and epilepsy. No overlapping deletion...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21633362
DOI: 10.1038/jhg.2011.58

Genes

ARHGEF9

Provenance

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Loss-of-function mutation of collybistin is responsible for X-linked mental retardation associated with epilepsy.PMID 21633362Read ↗

Autism spectrum disorder in females with ARHGEF9 alterations and a random pattern of X chromosome inactivation.Semantic proximity Read ↗

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De novo Xq11.11 microdeletion including ARHGEF9 in a boy with mental retardation, epilepsy, macrosomia, and dysmorphic features.Semantic proximity Read ↗

ARHGEF9 mutations in epileptic encephalopathy/intellectual disability: toward understanding the mechanism underlying phenotypic variation.Semantic proximity Read ↗

A novel de novo hemizygous ARHGEF9 mutation associated with severe intellectual disability and epilepsy: a case report.Semantic proximity Read ↗

Human ARHGEF9 intellectual disability syndrome is phenocopied by a mutation that disrupts collybistin binding to the GABAA receptor α2 subunit.Semantic proximity Read ↗

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Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.Semantic proximity Read ↗

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