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 journalArticle

7 Citations (Scopus)

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

Fingerprint

Intellectual Disability
Language Development Disorders
Chromosome Deletion
GABA Receptors
Brain Diseases
Point Mutation
Mental Disorders
Glycine
Cluster Analysis
Brain
Genes
Autism Spectrum Disorder
gephyrin
Hyperekplexia

Keywords

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder. / Bhat, Gifty; LaGrave, Danielle; Millson, Alison; Herriges, John; Lamb, Allen N.; Matalon, Reuben.

In: European Journal of Medical Genetics, 15.04.2016.

Research output: Contribution to journalArticle

Bhat, Gifty ; LaGrave, Danielle ; Millson, Alison ; Herriges, John ; Lamb, Allen N. ; Matalon, Reuben. / Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder. In: European Journal of Medical Genetics. 2016.
@article{47fc13317e534d249b6f95065321c8e0,
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.",
keywords = "ARHGEF9, Autism spectrum disorder, Intellectual disability, Xq11.1-11.2 deletion",
author = "Gifty Bhat and Danielle LaGrave and Alison Millson and John Herriges and Lamb, {Allen N.} and Reuben Matalon",
year = "2016",
month = "4",
day = "15",
doi = "10.1016/j.ejmg.2016.05.014",
language = "English (US)",
journal = "European Journal of Medical Genetics",
issn = "1769-7212",
publisher = "Elsevier Masson SAS",

}

TY - JOUR

T1 - Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder

AU - Bhat, Gifty

AU - LaGrave, Danielle

AU - Millson, Alison

AU - Herriges, John

AU - Lamb, Allen N.

AU - Matalon, Reuben

PY - 2016/4/15

Y1 - 2016/4/15

N2 - 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.

AB - 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.

KW - ARHGEF9

KW - Autism spectrum disorder

KW - Intellectual disability

KW - Xq11.1-11.2 deletion

UR - http://www.scopus.com/inward/record.url?scp=84973163750&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84973163750&partnerID=8YFLogxK

U2 - 10.1016/j.ejmg.2016.05.014

DO - 10.1016/j.ejmg.2016.05.014

M3 - Article

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

SN - 1769-7212

ER -