18p11.22CNV Type: Deletion-Duplication
Largest CNV size: 466980 bp
Statistics Box:
Number of Reports: 9
Number of Reports: 9
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of ...
Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Pathogenic copy number variants and SCN1A mutations in patients with intellectual disability and childhood-onset epilepsy.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Deletion
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Paternally inherited cis-regulatory structural variants are associated with autism.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
brandler_18_ASD_replication_cases
Affected individuals from MSSNG cohort (1395 cases from 1187 families) and the Simons Simplex 2 (SSC2) cohort (584 cases from simplex quad families)
1979
Cases diagnosed with ASD
N/A
N/A
3401
1
0
1
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
228
1
0
1
cusco_09_ASD_discovery_cases
74 children followed in neurology clinic, 22 institutionalized mentally retarded adults with confirmed diagnosis of ASD
96
ASD
87.5% Male
466980
0
1
1
cusco_09_ASD_replication_cases
Replication cohort of ASD patients
215
ASD
466980
0
0
0
fry_16_DD/ID/EP/ASD_discovery_cases
Participants recruited between 2010 and 2014 and identified through medical genetics, learning disability, and pediatric neurology clinics around Wales
80
All cases presented with childhood-onset epilepsy (25 with epileptic encephalopathy, 22 with non-lesional focal epilepsies, 22 with genetic generalized epilepsy with ID, 11 unclassified or unknown) and developmental delay (DD) or intellectual disability (ID)
Range, <1 yr.-60 yrs.
45.0% Male
539000
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
261000
1
0
1
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
1266141
1
0
1
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
393000
0
1
1
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
369947
0
1
1
sanders_11_ASD_discovery_cases
Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
1124
ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
Mean, 9.1 yrs.
86.1% Male
580
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cusco_09_ASD_discovery_controls
Control individuals matched for population ancestry
52
Control
51.9% Male
466980
0
0
0
cusco_09_ASD_replication_controls
Replication control cohort
120
Control
466980
0
0
0
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
575327
0
3
3
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
131889
1
1
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
brandler_18_ASD_replication_cases
N/A
WGS
Illumina HiSeq X10
ForestSV, Lumpy, Manta, Mobster, SV2
None
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
cusco_09_ASD_discovery_cases
Spanish
aCGH
BAC array containing 5442 large insert DNA fragments
PennCNV
CNV partition
MLPA, aCGH, array SNP
cusco_09_ASD_replication_cases
MLPA
MLPA panel containing probes targeting CNVs identified in discovery
fry_16_DD/ID/EP/ASD_discovery_cases
78 White British, 1 South Asian, 1 Mixed White/South Asian
aCGH, solid phase hybridization
Illumina610-Quad SNP-array, Illumina OmniExpress SNP-array, BlueGnome CytoChip ISCA 8x60k v2.0 array
PennCNV
Illumina BlueFuse Multi v3.1
Solid phase hybridization (Illumina)
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
sanders_11_ASD_discovery_cases
White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
Solid phase hybridization
Illumina 1M v1, Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cusco_09_ASD_discovery_controls
Spanish
aCGH
BAC array containing 5442 large insert DNA fragments
cusco_09_ASD_replication_controls
MLPA
MLPA panel containing probes targeting CNVs identified in discovery
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
brandler_18_ASD_replication_cases-caseAU4089302
N/A
M
ASD
Case from MSSNG cohort
9543525
9546925
3401
GRCh38
Deletion
No
celestino-soper_11_ASD_discovery_cases-11399
NA
M
ASD
NA
NA
8609836
8610064
229
GRCh38
Deletion
No
cusco_09_ASD_discovery_cases-AUT91
NA
M
Autism
NA
Severe MR
10127382
10594362
466980
Unknown
Duplication
Yes
fry_16_DD/ID/EP/ASD_discovery_cases-caseR622
28 yrs.
F
Intellectual disability and epilepsy
Clinical features: moderate intellectual disability, challenging behavior. Age of seizure onset: 6 months. Epilepsy syndrome: genetic generalized epilepsy with ID. Seizure types: infantile spasms, generalized tonic-clonic seizures, myoclonic seizures. This case also has a de novo likely pathogenic SCN1A mutation (p.Gly96GlufsTer24).
Moderate intellectual disability
10042026
10581307
539282
GRCh38
Duplication
Yes
girirajan_13a_ASD_discovery_cases-14238.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
9290002
9550002
260001
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005033
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
9518608
10784749
1266142
GRCh38
Deletion
Yes
nava_13_ASD_discovery_cases-Fam444Proband6892
N/A
F
ASD
Additional clinical profile info N/A
ID
8794094
9186686
392593
GRCh38
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_311
8 yrs.
M
ASD and intellectual disability
ASD, macrosomia
Intellectual disability
9162252
9532198
369947
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13079.p1
9.4
M
Autism
NA
Full-scale IQ, 128; non-verbal IQ, 141; verbal IQ, 128
9539546
9540126
581
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlB246082_1007853901
N/A
N/A
Control
No previous psychiatric history
10525483
10832853
307371
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900545_900545
N/A
N/A
Control
No previous psychiatric history
8555449
8713090
157642
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900545_900545
N/A
N/A
Control
No previous psychiatric history
10099491
10674818
575328
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-13048.s1
15.6
F
Control (matched sibling)
NA
NA
9539546
9540126
581
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13233.s1
10.5
F
Control (matched sibling)
NA
NA
9996146
10128035
131890
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
brandler_18_ASD_replication_cases-caseAU4089302
No validation step reported
Paternal
PPP4R1
celestino-soper_11_ASD_discovery_cases-11399
Unknown
Simplex
NA
RAB12
cusco_09_ASD_discovery_cases-AUT91
MLPA & array SNP (Illumina 370)
Unknown
NA
NA
APCDD1, NAPG
fry_16_DD/ID/EP/ASD_discovery_cases-caseR622
Solid phase hybridization (Illumina)
Maternal
LINC01254,NAPG,APCDD1
girirajan_13a_ASD_discovery_cases-14238.p1
Unknown
Simplex
Unknown
RNU2-27P,TWSG1,RALBP1,PPP4R1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005033
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,LINC01254,CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,RALBP1,PPP4R1-AS1,VAPA,NAPG,PPP4R1,RAB31,RN7SL862P,LINC01887,PIEZO2,APCDD1
nava_13_ASD_discovery_cases-Fam444Proband6892
Paternal
Simplex
Unknown
RPS4XP19,NDUFV2,NDUFV2-AS1,MTCL1,ANKRD12
quintela_17_DD/ID_discovery_cases-caseID_311
Unknown (not paternal)
Unknown
RNU2-27P,TWSG1,RALBP1,ANKRD12
sanders_11_ASD_discovery_cases-13079.p1
Maternal
Simplex (trio)
NA
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB246082_1007853901
Unknown
CCDC58P1,PMM2P1,KIAA0895LP1,MIR6788,NAPG,LINC01887,PIEZO2
engchuan_15_ASD_discovery_controls-controlHABC_900545_900545
Unknown
TOMM20P3,RAB12,GACAT2,MTCL1
engchuan_15_ASD_discovery_controls-controlHABC_900545_900545
Unknown
LINC01254,CCDC58P1,PMM2P1,NAPG,LINC01887,PIEZO2,APCDD1
sanders_11_ASD_discovery_controls-13048.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13233.s1
Maternal
Simplex (quad)
NA
No Animal Model Data Available