2016
DOI: 10.1016/j.ejmg.2016.05.014
|View full text |Cite
|
Sign up to set email alerts
|

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

Help me understand this report

Search citation statements

Order By: Relevance

Paper Sections

Select...
2
1
1
1

Citation Types

1
20
0

Year Published

2017
2017
2022
2022

Publication Types

Select...
7
1

Relationship

0
8

Authors

Journals

citations
Cited by 21 publications
(21 citation statements)
references
References 18 publications
1
20
0
Order By: Relevance
“…Here, only the latter was observed in SPICA-null mice (Figures 3E and 4). This finding suggests that SPICA is also potentially responsible for the autism spectrum disorder noted in an individual patient that is associated with deletion of Xq11.1-11.2, which involves the SPICA-encoding exon (Bhat et al, 2016). Also, the global developmental delay diagnosed for this patient is consistent with the reduced body weight of SPICA-null mice ( Figure 4B).…”
Section: Discussionsupporting
confidence: 52%
See 1 more Smart Citation
“…Here, only the latter was observed in SPICA-null mice (Figures 3E and 4). This finding suggests that SPICA is also potentially responsible for the autism spectrum disorder noted in an individual patient that is associated with deletion of Xq11.1-11.2, which involves the SPICA-encoding exon (Bhat et al, 2016). Also, the global developmental delay diagnosed for this patient is consistent with the reduced body weight of SPICA-null mice ( Figure 4B).…”
Section: Discussionsupporting
confidence: 52%
“…Collybistin participates in inhibitory synapse development by recruiting gephyrin, the main scaffolding protein in inhibitory postsynaptic densities (Grosskreutz et al, 2001;Harvey et al, 2004;Papadopoulos et al, 2007). This well-studied molecular function of collybistin has been used to explain the neurological genetic disorders associated with disruption of the ARHGEF9 locus (Bhat et al, 2016).…”
Section: Introductionmentioning
confidence: 99%
“…Therefore, ARHGEF9 is an important component of the inhibitory synapses [160]. Several case studies have revealed mutations in the ARHGEF9 gene leading to XLMR, ASD, along with phenotypes such as seizures and epilepsy [131,149,150,151,152,153,160]. A dominant-negative missense mutation, p.G55A, has been linked to severe mental retardation, hyperekplexia, drug-resistant seizures, and premature death in a male patient [160].…”
Section: Regulators Of Rho Gtpases In Neurological Disordersmentioning
confidence: 99%
“…In one of the cases, the mutation led to epilepsy, anxiety, aggression, and MR, while in the other case, the patient had XLMR and sensory hyperarousal [149,152]. Finally, an 82 kb deletion including ARHGEF9 gene has been detected in an 8-year-old female with ASD, intellectual disability, and speech delay [131]. Altogether, these case studies highlight that the role of ARHGEF9 in gephyrin mediated postsynaptic membrane organization in inhibitory synapses is of critical importance during brain development.…”
Section: Regulators Of Rho Gtpases In Neurological Disordersmentioning
confidence: 99%
“…Through these domains, collybistin has been shown to interact with gephyrin, neuroligin-2, and the GABA A R α2 subunit, playing an important role in clustering of GABA A Rs at inhibitory synapses ( Saiepour et al, 2010 ). To this point, 18 patients have been described to have either point mutations, chromosomal rearrangements and deletions involving ARHGEF9 , with a range of manifestations including ASD ( Bhat et al, 2016 ; Machado et al, 2016 ), behavior disorders (ADHD, anxiety, aggression; Kalscheuer et al, 2009 ; Lesca et al, 2011 ), intellectual disability ( Kalscheuer et al, 2009 ; Lesca et al, 2011 ; Marco et al, 2011 ; Shimojima et al, 2011 ; de Ligt et al, 2012 ; Lemke et al, 2012 ), hyperekplexia ( Harvey et al, 2004 ; Marco et al, 2008 ), and infantile epilepsy ( Harvey et al, 2004 ; Kalscheuer et al, 2009 ; Lesca et al, 2011 ; Shimojima et al, 2011 ). The majority of patients identified are male, and those that are female have been shown to have a near complete X-inactivation in favor of the affected gene ( Marco et al, 2008 ; Kalscheuer et al, 2009 ).…”
Section: Very Rare Mutations and Associated Disordersmentioning
confidence: 99%