7q21.12-q21.13CNV Type: Duplication
Largest CNV size: 1734992 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Duplications within this region were found in three cases from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
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
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
17q12 deletion and duplication syndrome in Denmark-A clinical cohort of 38 patients and review of the literature.
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bowling_17_DD/ID_discovery_cases
Individuals affected by developmental delay and/or intellectual disability and enrolled at North Alabama Children's Specialists (Huntsville, Alabama, USA)
371
Developmental delay (DD) and/or intellectual disability (ID); seizures in 45.3% of cases, ASD in 25.6% of cases
Average age of 10.56 yrs. (range: 2-54 yrs.)
57.7% Male
1716436
0
2
2
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
1734664
0
1
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
1734992
0
3
3
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
2000000
0
2
2
rasmussen_16_17q12CNV_discovery_cases
38 Danish patients (19 index patients and 19 family members) diagnosed with 17q12 deletions and duplications since chromosomal microarray (CMA) became a clinically available diagnostic tool in Denmark in 2006
38
Majority of cases presented with learning disability, delayed motor milestones, and/or delayed language development
39.47% Male
2274505
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
0
0
0
0
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
leppa_16_ASD_discovery_controls
Unaffected children from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
572
Control
N/A
N/A
2000000
0
2
2
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.
137542
1
0
1
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
125909
1
0
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bowling_17_DD/ID_discovery_cases
N/A
CMA, WGS
Microarray platform N/A, WGS platform Illumina HiSeq Xs
None
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
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
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
rasmussen_16_17q12CNV_discovery_cases
Denmark
aCGH, array SNP, solid phase hybridization
Agilent 180K, Agilent 400K, Oxford Gene Technology CytoSure Syndrome Plus v2 105K, Illumina HumanCytoSNP-12 v2.1 300K, Affymetrix 250K
None
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
leppa_16_ASD_discovery_controls
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
nord_11_ASD_discovery_controls
aCGH
NimbleGen HD2
Sliding-window algorithm, ~10 kb minumum size threshold
None
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
bowling_17_DD/ID_discovery_cases-case00233-C
N/A
N/A
ASD and intellectual disability
Intellectual disability (moderate); Autism spectrum disorder; Speech delay
Moderate intellectual disability
88520043
90236479
1716437
GRCh38
Duplication
No
bowling_17_DD/ID_discovery_cases-case00233-S
N/A
N/A
Intellectual disability
Intellectual disability (moderate); Speech delay
Moderate intellectual disability
88520043
90236479
1716437
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case6037_5
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
88519150
90253815
1734666
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002196
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
88521030
90256023
1734994
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002204
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
88521030
90256023
1734994
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002783
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
88520043
90241919
1721877
GRCh38
Duplication
Yes
leppa_16_ASD_discovery_cases-AU034004
N/A
F
ASD
88518685
90537686
2019002
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU2922302
N/A
M
ASD
88527685
89890686
1363002
GRCh38
Duplication
No
rasmussen_16_17q12CNV_discovery_cases-dup10.1
19 yrs.
F
Learning disability and Tourette syndrome
Birth/neonatal history: gestational age 39+0; birth weight 3000g (roughly -1 SD), length 50 cm (roughly M). Developmental milestones: delayed motor milestones; delayed language development requiring speech and language therapy. Behavioral/psychiatric evaluation: Tourette syndrome requiring medication. Brain imaging: normal CT at 5 years. Dysmorphic features: none. Growth parameters: overweight with height of 158 cm (<-3 SD) at 19 years.
Learning disability; IQ 52; enrolled in special education class.
88130171
90404676
2274505
Unknown
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
leppa_16_ASD_discovery_controls-AU1346303
N/A
F
Control
Unaffected sibling
88518685
90537686
2019002
GRCh38
Duplication
No
leppa_16_ASD_discovery_controls-AU1346304
N/A
M
Control
Unaffected sibling
88518685
90537686
2019002
GRCh38
Duplication
No
nord_11_ASD_discovery_controls-04C27965
Control
87935871
88073412
137542
Unknown
Deletion
sanders_11_ASD_discovery_controls-12483.s1
12.7
M
Control (matched sibling)
NA
NA
88469422
88595332
125911
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bowling_17_DD/ID_discovery_cases-case00233-C
Paternal
Multiplex
Possibly segregated
KPNA2P2,PQLC1P1,EEF1A1P28,TEX47,RNU6-274P,DPY19L2P4,STEAP1,ZNF804B,STEAP2-AS1,STEAP2
bowling_17_DD/ID_discovery_cases-case00233-S
Paternal
Multiplex
Possibly segregated
KPNA2P2,PQLC1P1,EEF1A1P28,TEX47,RNU6-274P,DPY19L2P4,STEAP1,ZNF804B,STEAP2-AS1,STEAP2
engchuan_15_ASD_discovery_cases-case6037_5
Unknown
KPNA2P2,PQLC1P1,EEF1A1P28,TEX47,RNU6-274P,DPY19L2P4,STEAP1,CFAP69,ZNF804B,STEAP2-AS1,STEAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002196
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
KPNA2P2,PQLC1P1,EEF1A1P28,TEX47,RNU6-274P,DPY19L2P4,STEAP1,CFAP69,ZNF804B,STEAP2-AS1,STEAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002204
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KPNA2P2,PQLC1P1,EEF1A1P28,TEX47,RNU6-274P,DPY19L2P4,STEAP1,CFAP69,ZNF804B,STEAP2-AS1,STEAP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002783
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KPNA2P2,PQLC1P1,EEF1A1P28,TEX47,RNU6-274P,DPY19L2P4,STEAP1,ZNF804B,STEAP2-AS1,STEAP2
leppa_16_ASD_discovery_cases-AU034004
Paternal
Multiplex
Not segregated (CNV not present in affected sibling)
KPNA2P2,PQLC1P1,EEF1A1P28,TEX47,RNU6-274P,DPY19L2P4,FAM237B,STEAP1,GTPBP10,CFAP69,CLDN12,CDK14,ZNF804B,STEAP2-AS1,STEAP2
leppa_16_ASD_discovery_cases-AU2922302
Maternal
Simplex
Unknown
KPNA2P2,PQLC1P1,EEF1A1P28,TEX47,RNU6-274P,ZNF804B,STEAP2-AS1
rasmussen_16_17q12CNV_discovery_cases-dup10.1
Unknown
Unknown
8 genes
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
leppa_16_ASD_discovery_controls-AU1346303
Paternal
Multiplex
KPNA2P2,PQLC1P1,EEF1A1P28,TEX47,RNU6-274P,DPY19L2P4,FAM237B,STEAP1,GTPBP10,CFAP69,CLDN12,CDK14,ZNF804B,STEAP2-AS1,STEAP2
leppa_16_ASD_discovery_controls-AU1346304
Paternal
Multiplex
KPNA2P2,PQLC1P1,EEF1A1P28,TEX47,RNU6-274P,DPY19L2P4,FAM237B,STEAP1,GTPBP10,CFAP69,CLDN12,CDK14,ZNF804B,STEAP2-AS1,STEAP2
nord_11_ASD_discovery_controls-04C27965
0 genes
sanders_11_ASD_discovery_controls-12483.s1
Maternal
Simplex (quad)
NA
KPNA2P2
No Animal Model Data Available