Xq11.1-q11.2CNV Type: Deletion
Largest CNV size: 216700 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A de novo deletion involving the ARHGEF9 gene was identified in an 18-year-old male patient presenting with autism, severe intellectual disability, and epilepsy (Machado et al., 2015).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Collybistin binds and inhibits mTORC1 signaling: a potential novel mechanism contributing to intellectual disability and autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Xq11.1-11.2 deletion involving ARHGEF9 in a girl with autism spectrum disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bhat_16_ASD/ADHD/DD/ID_discovery_cases
Female patient born to non-consanguineous parents of Mexican ancestry with non-contributory family history
1
Case diagnosed with ASD at age of 6 years (GARS-2) and with ADHD at 5 years (Commers' ADHD Rating Scale) and presented with global developmental delay and mild intellectual disability (formal IQ test N/A)
8 yrs.
Female
82000
1
0
1
machado_15_ASD/ID/EP_discovery_cases
Only child of healthy non-consanguineous parents presenting with autism, severe intellectual disability, and epilepsy
1
Case presents with autism, severe intellectual disability, and epilepsy. Diagnosis of autism by Childhood Autism Rating Scale (CARS score of 34.5, indicating mild-to-moderate autism); Vineland Adaptive Behavior Scales second edition (VABS-II) revealed severely deficient adaptive behavior (VABS-II composite score of 32)
18 yrs.
Male
216700
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bhat_16_ASD/ADHD/DD/ID_discovery_cases
Mexican
Array SNP
Affymetrix CytoScan HD
None
machado_15_ASD/ID/EP_discovery_cases
Caucasian
aCGH
Agilent 44K
Solid phase hybridization (Illumina CytoSNP 850K BeadChip)
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bhat_16_ASD/ADHD/DD/ID_discovery_cases-case1
8 yrs.
F
ASD, ADHD, developmental delay and intellectual disability
Case diagnosed with ASD at age of 6 years (GARS-2) and with ADHD at 5 years (Commers' ADHD Rating Scale). Birth/neonatal history: born at term via spontaneous vaginal delivery following uncomplicated pregnancy; birth weight of 3400 g (50th %ile); uneventful neonatal period. Developmental milestones: walked at 16 months, first words at 2 years of age. Language and communication evaluation: severe speech impairment; vocabulary limited to about 20 words, unable to combined words together, communicated by pointing, reported to be making progress with assistance of speech therapy; poor comprehension of verbal instructions. Behavioral/psychiatric evaluation: behavioral issues first noticed at 3 years of age; multiple sensory sensitivities based upon Short Sensory Profile; lack of social interaction; poor eye contact; hand flapping when excited; shyness around new people; occasional temper tantrums. Epilepsy/seizures: no history of seizures. Dysmorphic features: none noted on physical exam. Family history: non-consanguineous parents of Mexican ancestry; non-contributory family history.
Mild intellectual disability (unable to perform a formal IQ test)
63750691
63832816
82126
GRCh38
Deletion
No
machado_15_ASD/ID/EP_discovery_cases-case1
18 yrs.
M
ASD, ID, and epilepsy
Diagnosis of autism by Childhood Autism Rating Scale (CARS score of 34.5, indicating mild-to-moderate autism). Behavioral/psychiatric evaluation: Vineland Adaptive Behavior Scales second edition (VABS-II) revealed severely deficient adaptive behavior (VABS-II composite score of 32). Epilepsy/seizures: seizures under control with medication (valproic acid). EEG: focal epileptifrom discharges that were maximal over left frontocentral head region. Dysmorphic features: none. Family history: only child of healthy non-consanguineous parents.
Severe intellectual disability; IQ test could not be taken properly owing to severity of ID
63636294
63852981
216688
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bhat_16_ASD/ADHD/DD/ID_discovery_cases-case1
De novo
Simplex
Likely segregated
BTF3P8,MIR1468,ARHGEF9
machado_15_ASD/ID/EP_discovery_cases-case1
Solid phase hybridization (Illumina CytoSNP 850K BeadChip)
De novo
Simplex
Segregated
ARHGEF9-IT1,BTF3P8,MIR1468,ARHGEF9
iPSC-derived neural progenitor cells showed complete loss of ARHGEF9 expression
Controls
No Control Data Available
No Animal Model Data Available