7p22.3-p22.2CNV Type: Deletion
Largest CNV size: 2550000 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
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Global increases in both common and rare copy number load associated with autism.
Duplication
Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_13b_ASD_discovery_cases
Children with autism ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (274 initial cases)
243
Diagnosis of autism confirmed by ADOS and ADI-R. Exclusion criteria: children with developmental delay but lacking symptoms and autism, as well as children with ASD as defined by the CHARGE protocol
N/A
N/A
738989
0
1
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
447000
1
0
1
mulle_13_SCZ_discovery_cases_1
SCZ probands of Ashkenazi Jewish descent recruited nationally over a 6-year period
554
Diagnosis of schizophrenia based on meeting DSM-IV citeria
N/A
N/A
3261110
0
1
1
sherman_21_ASD_discovery_cases
ASD probands from the Simons Simplex Collection (n=2,594) and the SPARK cohort (n=9,483) screened for mosaic CNVs (mCNVs)
12077
Cohort diagnosis of ASD
Range, 3-40+ yrs.
NA
756685
0
1
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
2550000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_13b_ASD_discovery_controls
Controls ascertained from the Childhood Autism Risks from Genetics and Environment (CHARGE) study conducted through the Medical Investigation of Neurodevelopmental Disorders (MIND) Institute at UC-Davis after passing QC criteria (242 initial controls)
223
Control
N/A
N/A
0
0
0
0
mulle_13_SCZ_discovery_controls_1
Control subjects selected from three cohorts: a study of Crohn's disease in the Ashkenazim, a study of neuromuscular disease in the Ashkenazim, and the Ashkenazi Jewish Control Registry hosted at Johns Hopkins University.
1014
Control. Control subjects from Crohn's and neuromuscular cohorts were not screened for psychiatric disease; Ashkenazi Jewish Control Registry subjects administered a questionnaire about psychiatric conditions.
N/A
N/A
N/A
N/A
N/A
N/A
sherman_21_ASD_discovery_controls
Unaffected siblings of ASD probands from the Simons Simplex Collection (n=2,424) and the SPARK cohort (n=3,076) screened for mosaic CNVs (mCNVs)
5500
Control (unaffected siblings of ASD probands)
Range, 3-18 yrs.
NA
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_13b_ASD_discovery_cases
133 European, 57 Hispanic, 27 Mixed Race, 20 Asian, 6 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
mulle_13_SCZ_discovery_cases_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
None
sherman_21_ASD_discovery_cases
NA
Solid phase hybridization
Illumina 1Mv1, Illumina 1Mv3, Illumina Omni2.5, Illumina Infinium Global Screening Array-24 v.1.0
MoChA
None
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_13b_ASD_discovery_controls
116 European, 70 Hispanic, 27 Mixed Race, 7 Asian, 3 African-American
aCGH
Roche NimbleGen custom targeted hotspot array comprised of 135,000 probes with higher density probe coverage in genomic hotspots (regions flanked by segmental duplications)
DNA Copy Number v1.6
mulle_13_SCZ_discovery_controls_1
Ashkenazi Jewish
Array SNP
Affymetrix 6.0
GLAD, GADA, BEAST
Affymetrix power tools software v1.12.0
None
sherman_21_ASD_discovery_controls
NA
Solid phase hybridization
Illumina 1Mv1, Illumina 1Mv3, Illumina Omni2.5, Illumina Infinium Global Screening Array-24 v.1.0
MoChA
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
girirajan_13b_ASD_discovery_cases-25807108397
N/A
N/A
Autism
Diagnosis of autism confirmed by ADOS and ADI-R. Ethnicity: Asian
N/A
1402524
2141514
738991
GRCh38
Duplication
No
maini_18_ASD/DD/ID_discovery_cases-case_unknown188
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
2357918
2805783
447866
GRCh38
Deletion
No
mulle_13_SCZ_discovery_cases_1-caseAJ_8036_1
N/A
N/A
Schizophrenia
N/A
N/A
43902
3307851
3263950
GRCh38
Duplication
No
sherman_21_ASD_discovery_cases-SPARK_SP0035972
21 yrs.
M
ASD
ASD proband from the SPARK cohort. SCQ summary score: NA. Mosaic cell fraction: 0.3934. CNV occurs on the paternal haplotype.
2432793
3189477
756685
GRCh38
Duplication
No
tzetis_12_DD/ID_discovery_cases-case83
F
ASD
Craniofacial dysmorphism, microcephaly, myopia, prominent ears, small forehead, carp mouth, single palmar crease, small hands, hypertonicity of extremities, ataxia, ASD
155149
2795168
2640020
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
girirajan_13b_ASD_discovery_cases-25807108397
Unknown
Unknown
Unknown
PSMG3,TFAMP1,ELFN1-AS1,MIR4655,INTS1,MAFK,TMEM184A,MICALL2,PSMG3-AS1,ELFN1,MAD1L1
maini_18_ASD/DD/ID_discovery_cases-case_unknown188
De novo
Unknown
Unknown
GRIFIN,MIR4648,CHST12,LFNG,BRAT1,IQCE,TTYH3,EIF3B,AMZ1,GNA12
mulle_13_SCZ_discovery_cases_1-caseAJ_8036_1
Unknown
Unknown
Unknown
CYP2W1,MIR339,GPER1,ZFAND2A,UNCX,PSMG3,TFAMP1,ELFN1-AS1,MIR4655,MRM2,MIR6836,IMMP1LP3,GRIFIN,MIR4648,RN7SKP130,FAM20C,PDGFA,SUN1,GET4,INTS1,MAFK,TMEM184A,NUDT1,SNX8,CHST12,LFNG,BRAT1,IQCE,TTYH3,HRAT92,PRKAR1B,DNAAF5,ADAP1,COX19,MICALL2,PSMG3-AS1,ELFN1,EIF3B,AMZ1,GNA12,CARD11,C7orf50,GPR146,MAD1L1,SDK1
sherman_21_ASD_discovery_cases-SPARK_SP0035972
CHST12,TTYH3,CARD11,AMZ1,GNA12,BRAT1,GRIFIN,LFNG,MIR4648,CARD11-AS1,RN7SKP130,IQCE
tzetis_12_DD/ID_discovery_cases-case83
Unknown
Unknown
CYP2W1,MIR339,GPER1,ZFAND2A,UNCX,PSMG3,TFAMP1,ELFN1-AS1,MIR4655,MRM2,MIR6836,IMMP1LP3,GRIFIN,MIR4648,FAM20C,PDGFA,SUN1,GET4,INTS1,MAFK,TMEM184A,NUDT1,SNX8,CHST12,LFNG,BRAT1,IQCE,TTYH3,HRAT92,PRKAR1B,DNAAF5,ADAP1,COX19,MICALL2,PSMG3-AS1,ELFN1,EIF3B,AMZ1,GNA12,C7orf50,GPR146,MAD1L1
Controls
No Control Data Available
No Animal Model Data Available