2q23.3-q24.1CNV Type: Deletion
Largest CNV size: 3600000 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion-Duplication
De novo variants of NR4A2 are associated with neurodevelopmental disorder and epilepsy
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Mapping of partially overlapping de novo deletions across an autism susceptibility region (AUTS5) in two unrelated individuals affected by developm...
Deletion
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
du_21_ASD/DD/ID/EP_discovery_cases
Individuals who had a Neurodevelopmental Reflex (NDR) panel ordered through Cincinnati Children's Hospital Medical Center (CCHMC) from January 2018 to April 2019.
511
Common clinical indications for patients in this cohort included autism spectrum disorder (ASD), developmental delay(DD), speech delay, intellectual disability (ID), gross motor delay, mixed receptive-expressive language disorder, epilepsy (EP), and/or dysmorphic features.
Range, 3 mos.-35 yrs. (median age, 3 yrs.)
73.6% Male
4353584
1
0
1
newbury_08_ASD/DD_discovery_cases
Two patients assessed by a single clinician to have shared developmental delays & severe expressive communication deficits between individuals
2
1 diagnosed with mild developmental delay, 1 diagnosed with PDD-NOS
~12 yrs for both
Female
3600000
1
0
1
singh_20_DD/ID/EP_discovery_cases
Unrelated indivduals with variants affecting the NR4A2 gene
9
All 9 cases presented with developmental delay; 8 cases presented with intellectual disability, 6 cases presented with seizures, and 1 case presented with autism
Mean age 12.4 years (range 243 years)
44.44% Male
3698031
1
0
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
6912000
1
1
2
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
3070875
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_13a_ASD_discovery_controls2
Controls characterized through the Wellcome Trust Case-Control Consortium (WTCCC) for smaller hotspot regions and candidate-gene events
2090
Control
NA
NA
N/A
1
0
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
du_21_ASD/DD/ID/EP_discovery_cases
United States
Solid phase hybridization
Illumina CytoSNP-850Kv1.2 BeadChip
NA
Illumina Genome Studio V2009.2
None
newbury_08_ASD/DD_discovery_cases
British (1 Caucasian ancestry, 1 Chinese ancestry)
FISH
None
singh_20_DD/ID/EP_discovery_cases
NA
aCGH
Agilent 180K
FISH
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_13a_ASD_discovery_controls2
NA
Solid phase hybridization
Illumina 1.2M SNP microarray
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
du_21_ASD/DD/ID_discovery_cases-case89
2 yrs.
M
Developmental delay
Global developmental delay, hypotonia
151970381
156323964
4353584
GRCh38
Deletion
No
newbury_08_ASD/DD_discovery_cases-patient1
12
F
Developmental delay
Mild developmental delay, speech & language delay, social anxiety, sensory sensitivies, some rigidity of behaviors, normal motor milestones, recurrent infections, failure to thrive, short stature
Age of 6 yrs: performance IQ 80, verbal IQ 73. Global learning difficulties at age 12.
152282828
155882830
3600003
GRCh38
Deletion
No
singh_20_DD/ID/EP_discovery_cases-case9
43 yrs.
M
DD, ID, epilepsy/seizures
Developmental milestones: moderate developmental delay, developmental stagnation at 2.5 years. Motor and musculoskeletal evaluation: progressive ataxia in adulthood. Behavioral/psychiatric evaluation: hyperactivity, aggression, destructive behavior. Epilepsy/seizures: onset at 13 years; seizure types included absence sezures, tonic seizures, focal seizures with impaired awareness, and drop attacks. Brain imaging: enlarged cerebrospinal fluid spaces on MRI (patient 9 in this report).
Moderate-to-severe intellectual disability
153933699
157631729
3698031
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case1-0484-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Seizure disorder; asthma
151609486
158521488
6912003
GRCh38
Deletion
Yes
yuen_17_ASD_discovery_cases-case1-0836-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: Intellectual Disability
153826488
156900488
3074001
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0836-003
N/A
F
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
153826815
156897690
3070876
GRCh38
Duplication
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
girirajan_13a_ASD_discovery_controls2-control25
N/A
N/A
Control
N/A
N/A
N/A
N/A
N/A
NCBI36
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
du_21_ASD/DD/ID_discovery_cases-case89
Unknown
CACNB4,ATP5F1AP2,PRPF40A,RPRM,GALNT13,FMNL2,ARL6IP6,TUBAP13,CBX3P6,HEBP2P1,KCNJ3,DNAJA1P2,UBQLN4P2,RPL30P2,RPL23AP29,ATP5PBP4,RNA5SP107,MTND5P30,MTND2P20,MTND4P28,LINC01876,MTND6P9,RNU6-546P,RNU6-1001P,MTCYBP9,MTCO1P45,LINC01850,STAM2,NUDCP1
newbury_08_ASD/DD_discovery_cases-patient1
De novo
Simplex
NA
UBQLN4P2,ATP5PBP4,RPRM,DNAJA1P2,PHBP4,RNA5SP107,CBX3P6,RNU6-1001P,MTCO1P45,MTND2P20,ATP5F1AP2,MTND4P28,MTND5P30,MTND6P9,MTCYBP9,RNU6-546P,ARL6IP6,RPL23AP29,FMNL2,PRPF40A,LINC01850,KCNJ3,GALNT13
singh_20_DD/ID/EP_discovery_cases-case9
FISH
De novo
PHBP4,RNA5SP107,CBX3P6,RNU6-1001P,MTCO1P45,MTND2P20,ATP5F1AP2,MTND4P28,MTND5P30,MTND6P9,MTCYBP9,RNU6-546P,RPLP0P7,CDK7P1,RN7SKP281,FAM133DP,NR4A2,LINC01958,ERMN,KCNJ3,GPD2,CYTIP,ACVR1C,GALNT13,LINC01876,GALNT5
yuen_17_ASD_discovery_cases-case1-0484-003
Affymetrix 6.0
De novo
Simplex
Segregated
RPL30P2,UBQLN4P2,ATP5PBP4,RPRM,DNAJA1P2,PHBP4,RNA5SP107,CBX3P6,RNU6-1001P,MTCO1P45,MTND2P20,ATP5F1AP2,MTND4P28,MTND5P30,MTND6P9,MTCYBP9,RNU6-546P,RPLP0P7,CDK7P1,RN7SKP281,FAM133DP,RNU6-436P,RNU6-932P,PTP4A1P1,UPP2-IT1,HNRNPDLP2,RN7SL393P,ARL5A,ARL6IP6,RPL23AP29,NR4A2,LINC01958,ERMN,NEB,STAM2,FMNL2,PRPF40A,LINC01850,KCNJ3,GPD2,CYTIP,ACVR1C,ACVR1,UPP2,CCDC148-AS1,PKP4,CACNB4,GALNT13,LINC01876,GALNT5,CCDC148
yuen_17_ASD_discovery_cases-case1-0836-003
Affymetrix CytoScan HD
Unknown
Simplex
Unknown
PHBP4,RNA5SP107,CBX3P6,RNU6-1001P,MTCO1P45,MTND2P20,ATP5F1AP2,MTND4P28,MTND5P30,MTND6P9,MTCYBP9,RNU6-546P,RPLP0P7,NR4A2,LINC01958,KCNJ3,GPD2,GALNT13,LINC01876
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0836-003
RT-qPCR or WGS
Unknown
PHBP4,RNA5SP107,CBX3P6,RNU6-1001P,MTCO1P45,MTND2P20,ATP5F1AP2,MTND4P28,MTND5P30,MTND6P9,MTCYBP9,RNU6-546P,RPLP0P7,NR4A2,LINC01958,KCNJ3,GPD2,GALNT13,LINC01876
null
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13a_ASD_discovery_controls2-control25
Unknown
GALNT13
No Animal Model Data Available