7p22.2-p22.1CNV Type: Duplication
Largest CNV size: 188620 bp
Statistics Box:
Number of Reports: 7
Number of Reports: 7
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Reduced transcript expression of genes affected by inherited and de novo CNVs in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Duplication
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
Copy number variation in Han Chinese individuals with autism spectrum disorder.
Deletion-Duplication
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gazzellone_14_ASD_discovery_cases
ASD-affected individuals referred to the Children Development and Behavior Research Center (CDRBC) at Harbin Medical University, China, between January 2007 and June 2011.
104
Diagnosis of ASD made using Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
Mean age at enrollment, 4.31 1.80 yrs.
87.5% Male
670002
1
1
2
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
642314
0
1
1
nord_11_ASD_discovery_cases
Youth with ASD (as part of mother-father-child trios)
41
ASD
85.4% Male
179538
1
0
1
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
2700000
0
2
2
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
20737
1
0
1
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
529352
0
2
2
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
188620
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
120191
1
1
2
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
nord_11_ASD_discovery_controls
Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
123
Controls (no history of psychiatric symptoms by self-report)
30 yrs.
0
0
0
0
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
20737
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gazzellone_14_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix CytoScan HD
ChAS, iPattern, Nexus, Partek
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
nord_11_ASD_discovery_cases
29 European American, 3 Asian American, 2 Hispanic, 2 African American, 5 unknown ancestry
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
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
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
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
gazzellone_14_ASD_discovery_cases-case517-3
6 yrs.
F
ASD
ASD; no other clinical information provided
N/A
3975481
4645484
670004
GRCh38
Duplication
No
gazzellone_14_ASD_discovery_cases-case656-3
N/A
M
ASD
ASD; no other clinical information provided
N/A
4451335
4486318
34984
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000952
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
4469558
5111872
642315
GRCh38
Duplication
Yes
nord_11_ASD_discovery_cases-223-1
ASD
4321660
4501197
179538
Unknown
Deletion
No
oikonomakis_16_ASD_discovery_cases-case433
2 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: epicanthal folds, flat nasal bridge, full cheeks, prominent ears, pointed chin, ataxic gait
4491232
7097949
2606718
GRCh38
Duplication
No
oikonomakis_16_ASD_discovery_cases-case480
5 yrs.
F
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: obesity, short stature, synophrys, antimogoloid-narrow palpebral fissures, hypertelorism
4334387
7019212
2684826
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case93226
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
4497839
4518575
20737
Unknown
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1067-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: unknown. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
4425567
4719911
294345
GRCh38
Duplication
No
sajan_13_ACC/CBLH/PMG_discovery_cases-case1183-0
N/A
N/A
ACC-CBLH
Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: no. Seizures: yes.
Developmental delay: yes. Intellectual disability: yes.
4100153
4629505
529353
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12941.p1
4.5
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 93; verbal IQ, 96
4437319
4625939
188621
GRCh38
Duplication
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-control110036018687_
N/A
N/A
Control
No previous psychiatric history
4473401
4578519
105119
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
N/A
N/A
Control
No previous psychiatric history
4448352
4568543
120192
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gazzellone_14_ASD_discovery_cases-case517-3
Unknown
Unknown
Unknown
CYP3A54P,SDK1
gazzellone_14_ASD_discovery_cases-case656-3
Unknown
Unknown
Unknown
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000952
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CYP3A54P,MIR4656,PAPOLB,RPL22P16,SPDYE19P,RBAKDN,AP5Z1,MMD2,RBAK-RBAKDN,RBAK,FOXK1,RADIL,RNF216P1,OR10AH1P
nord_11_ASD_discovery_cases-223-1
Paternal
0 genes
oikonomakis_16_ASD_discovery_cases-case433
Unknown
CYP3A54P,MIR4656,PAPOLB,RPL22P16,SPDYE19P,RBAKDN,RNU6-215P,MIR589,MIR6874,RN7SL556P,SNORA80D,ANKRD61,RN7SL851P,RNU6-218P,RPSAP73,OR7E39P,UNC93B2,OR7E136P,OR7E59P,FAM86LP,MIR3683,AP5Z1,MMD2,RBAK-RBAKDN,RBAK,ZNF890P,WIPI2,SLC29A4,ACTB,FSCN1,RNF216-IT1,ZNF815P,OCM,CCZ1,RSPH10B,PMS2,AIMP2,CYTH3,FAM220A,RAC1,KDELR2,GRID2IP,ZDHHC4,C7orf26,ZNF853,ZNF316,ZNF12,PMS2CL,SPDYE20P,RSPH10B2,ALG1L5P,FOXK1,RADIL,RNF216P1,OR10AH1P,TNRC18,FBXL18,RNF216,EIF2AK1,USP42,DAGLB,CCZ1B
oikonomakis_16_ASD_discovery_cases-case480
Unknown
CYP3A54P,MIR4656,PAPOLB,RPL22P16,SPDYE19P,RBAKDN,RNU6-215P,MIR589,MIR6874,RN7SL556P,SNORA80D,ANKRD61,RN7SL851P,RNU6-218P,RPSAP73,OR7E39P,UNC93B2,OR7E136P,OR7E59P,FAM86LP,AP5Z1,MMD2,RBAK-RBAKDN,RBAK,ZNF890P,WIPI2,SLC29A4,ACTB,FSCN1,RNF216-IT1,ZNF815P,OCM,CCZ1,RSPH10B,PMS2,AIMP2,CYTH3,FAM220A,RAC1,KDELR2,GRID2IP,ZDHHC4,C7orf26,ZNF853,ZNF316,ZNF12,PMS2CL,SPDYE20P,RSPH10B2,ALG1L5P,FOXK1,RADIL,RNF216P1,OR10AH1P,TNRC18,FBXL18,RNF216,EIF2AK1,USP42,DAGLB,CCZ1B
prasad_12_ASD_discovery_cases-case93226
Unknown
Unknown
Unknown
0 genes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1067-0
Not tested by qPCR
Unknown
Unknown
Unknown
CYP3A54P,FOXK1
sajan_13_ACC/CBLH/PMG_discovery_cases-case1183-0
Not tested by qPCR
Unknown
Unknown
Unknown
CYP3A54P,SDK1
sanders_11_ASD_discovery_cases-12941.p1
Paternal
Simplex (trio)
NA
CYP3A54P
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036018687_
Unknown
CYP3A54P
engchuan_15_ASD_discovery_controls-controlB969719_1007842424
Unknown
CYP3A54P
No Animal Model Data Available