title: Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder.
abstract: We report an 8-year-old female with autism spectrum disorder (ASD), intellectual disability and speech delay who was found to carry a de novo 82 kb deletion of chromosome Xq11.1-11.2 involving the ARHGEF9 gene on chromosomal microarray. So far, 11 patients with point mutations, disruptions due to chromosomal rearrangements and deletions involving ARHGEF9 have been reported in the literature. ARHGEF9-related disorders comprise a wide phenotypic spectrum, including behavior disorders, autism spectrum disorder, intellectual disability, hyperekplexia and infantile epileptic encephalopathy. ARHGEF9 encodes for collybistin which plays an important role in post synaptic clustering of glycine and inhibitory gamma-aminobutyric acid receptors along with its scaffolding partner, gephyrin. The reduction of inhibitory receptor clusters in brain has been proposed as a plausible underlying pathophysiological mechanism. With this report, we provide further evidence for the role of ARHGEF9 in neurocognitive function, its implication in ASD, and review the clinical features of previously published individuals with ARHGEF9-related intellectual disability.
authors.affiliation: Division of Genetic Medicine, The Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, NY, USA. Electronic address: drgiftybhat@gmail.com.
authors.forename: Gifty
authors.initials: G
authors.lastname: Bhat
authors.affiliation: ARUP Laboratories, Salt Lake City, UT, USA.
authors.forename: Danielle
authors.initials: D
authors.lastname: LaGrave
authors.affiliation: ARUP Laboratories, Salt Lake City, UT, USA.
authors.forename: Alison
authors.initials: A
authors.lastname: Millson
authors.affiliation: ARUP Laboratories, Salt Lake City, UT, USA; Department of Pathology, University of Utah, Salt Lake City, UT, USA.
authors.forename: John
authors.initials: J
authors.lastname: Herriges
authors.affiliation: ARUP Laboratories, Salt Lake City, UT, USA; Department of Pathology, University of Utah, Salt Lake City, UT, USA.
authors.forename: Allen N
authors.initials: AN
authors.lastname: Lamb
authors.affiliation: Pediatric Genetics, University of Texas Medical Branch, Galveston, TX, USA.
authors.forename: Reuben
authors.initials: R
authors.lastname: Matalon
mesh_terms: D000067877:Autism Spectrum Disorder / Q000235:genetics*; D002648:Child; D002872:Chromosome Deletion; D041321:Chromosomes, Human, X; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D064067:Rho Guanine Nucleotide Exchange Factors / Q000235:genetics*
chemical_list: C577410:ARHGEF9 protein, human; D064067:Rho Guanine Nucleotide Exchange Factors
keywords: ARHGEF9; Autism spectrum disorder; Intellectual disability; Xq11.1-11.2 deletion