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

17 Scopus citations


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)
JournalEuropean Journal of Medical Genetics
StateAccepted/In press - Apr 15 2016


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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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