Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder

Gifty Bhat, Danielle LaGrave, Alison Millson, John Herriges, Allen N. Lamb, Reuben Matalon

Research output: Contribution to journalArticlepeer-review

12 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)470-473
Number of pages4
JournalEuropean Journal of Medical Genetics
Volume59
Issue number9
DOIs
StatePublished - Sep 1 2016

Keywords

  • ARHGEF9
  • Autism spectrum disorder
  • Intellectual disability
  • Xq11.1-11.2 deletion

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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