3q27.2-q29CNV Type: Deletion
Largest CNV size: 11300000 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spe...
Deletion
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Copy Number Variations independently induce Autism Spectrum Disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
11300000
1
0
1
jacquemont_06_ASD_discovery_cases
Patients diagnosed with syndromic autism selected by clinical geneticists or child psychiatricians of Necker-Enfants Malades Hospital in Paris, France (n=28) and from the PARIS study (n=1).
29
Patients diagnosed with syndromic autism. DSM-IV criteria met for autism, PDD-NOS, or Asperger syndrome.
NA
58.62% Male
8800000
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
12635115
1
1
2
yingjun_17_ASD_discovery_cases
ASD probands referred to the Clinical Genetics Service for genetic testing
64
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS)
N/A
N/A
11269380
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
jacquemont_06_ASD_discovery_cases
France
aCGH
BACs aCGH (1 Mb resolution array)
PCR, FISH
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
yingjun_17_ASD_discovery_cases
Chinese
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
N/A (Validation of some CNVs by FISH, qPCR was described, but the identity of validated CNVs was not reported)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bremer_11_ASD_discovery_cases-case2
13
M
ASD
Syndromic ASD, sporadic case
MR (IQ<70)
185266512
196615551
11349040
GRCh38
Deletion
Yes
jacquemont_06_ASD_discovery_cases-patient29
13 yrs.
M
PDD-NOS
Fulfilled DSM-IV criteria for PDD-NOS. Narrow pelvis and chest with pectus carinatum. Severe dorsal kyphosis. Feeding difficulties since birth, progressive weight loss (-3 SD). Dysmorphic features: triangular face, deep set eyes, gothic palate, micrognathia, abnormal helix, low neck hairline. Brain MRI: thick corpus callosum, megacisterna magna, accentuated Virchow-Robin spaces. Family history: history of mental retardation or ASD.
Mild mental retardation (MR)
NA
NA
8800000
Unknown
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002747
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
185485849
198110178
12624330
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004253
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
185920880
198110319
12189440
GRCh38
Duplication
Yes
yingjun_17_ASD_discovery_cases-case1471
N/A
N/A
ASD
Diagnosis of ASD based on Autism Behavior Checklist (ABC) and Childhood Autism Rating Scale (CARS). No further clinical information available.
184804518
196064811
11260294
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
bremer_11_ASD_discovery_cases-case2
MLPA, FISH
De novo
NA
NA
MIR548AQ,ETV5-AS1,LINC02051,CRYGS,RNU6-1105P,GPS2P2,EIF4A2,SNORD2,MIR1248,SNORA81,SNORA63,SNORA4,LINC02043,ADIPOQ-AS1,RPS20P14,RTP1,RTP4,SST,RTP2,FLJ42393,MIR28,TPRG1-AS1,TPRG1-AS2,MIR944,MTAPP2,RNU6-1109P,NMNAT1P3,GCNT1P3,RN7SKP296,LINC02013,CCT6P4,PYDC2,RN7SKP222,FGF12-AS2,FGF12-AS3,RNU1-20P,VEZF1P1,ATP13A5-AS1,ATP13A4-AS1,RN7SL447P,LINC02038,DPPA2P3,HES1,RN7SL215P,RNU6-1101P,RPL23AP93,TMEM44-AS1,FAM43A,LINC01972,XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,RPL4P4,TMEM41A,LIPH,TRA2B,NMRAL2P,ETV5,LINC02020,LINC02052,TBCCD1,DNAJB11,AHSG,HRG,KNG1,PSMD10P2,RFC4,ADIPOQ,MASP1,LINC02041,BCL6,LINC01991,LPP-AS2,LPP-AS1,P3H2-AS1,CLDN16,GMNC,UTS2B,HRASLS,OPA1-AS1,LINC02028,LINC02048,LINC00887,CPN2,LRRC15,GP5,ATP13A3,TMEM44,XXYLT1-AS2,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,EHHADH,MAP3K13,IGF2BP2,IGF2BP2-AS1,DGKG,ST6GAL1,RPL39L,TPRG1,P3H2,CLDN1,TMEM207,IL1RAP,OSTN,OSTN-AS1,CCDC50,FGF12,FGF12-AS1,MB21D2,ATP13A5,ATP13A4,OPA1,LINC02036,LINC02037,LINC00884,LSG1,LINC01968,XXYLT1,ACAP2,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP2,FETUB,LPP,TP63,LINC02026
jacquemont_06_ASD_discovery_cases-patient29
PCR, FISH
De novo
Unknown
Unknown
NA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002747
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR548AQ,ETV5-AS1,LINC02051,CRYGS,RNU6-1105P,GPS2P2,EIF4A2,SNORD2,MIR1248,SNORA81,SNORA63,SNORA4,LINC02043,ADIPOQ-AS1,RPS20P14,RTP1,RTP4,SST,RTP2,FLJ42393,MIR28,TPRG1-AS1,TPRG1-AS2,MIR944,MTAPP2,RNU6-1109P,NMNAT1P3,GCNT1P3,RN7SKP296,LINC02013,CCT6P4,PYDC2,RN7SKP222,FGF12-AS2,FGF12-AS3,RNU1-20P,VEZF1P1,ATP13A5-AS1,ATP13A4-AS1,RN7SL447P,LINC02038,DPPA2P3,HES1,RN7SL215P,RNU6-1101P,RPL23AP93,TMEM44-AS1,FAM43A,LINC01972,XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,RNU6-858P,RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,TMEM41A,LIPH,TRA2B,NMRAL2P,ETV5,LINC02020,LINC02052,TBCCD1,DNAJB11,AHSG,HRG,KNG1,PSMD10P2,RFC4,ADIPOQ,MASP1,LINC02041,BCL6,LINC01991,LPP-AS2,LPP-AS1,P3H2-AS1,CLDN16,GMNC,UTS2B,HRASLS,OPA1-AS1,LINC02028,LINC02048,LINC00887,CPN2,LRRC15,GP5,ATP13A3,TMEM44,XXYLT1-AS2,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,RPL35A,LMLN,ANKRD18DP,MAP3K13,IGF2BP2,IGF2BP2-AS1,DGKG,ST6GAL1,RPL39L,TPRG1,P3H2,CLDN1,TMEM207,IL1RAP,OSTN,OSTN-AS1,CCDC50,FGF12,FGF12-AS1,MB21D2,ATP13A5,ATP13A4,OPA1,LINC02036,LINC02037,LINC00884,LSG1,LINC01968,XXYLT1,ACAP2,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,IQCG,SENP2,FETUB,LPP,TP63,LINC02026,DLG1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004253
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ETV5-AS1,LINC02051,CRYGS,RNU6-1105P,GPS2P2,EIF4A2,SNORD2,MIR1248,SNORA81,SNORA63,SNORA4,LINC02043,ADIPOQ-AS1,RPS20P14,RTP1,RTP4,SST,RTP2,FLJ42393,MIR28,TPRG1-AS1,TPRG1-AS2,MIR944,MTAPP2,RNU6-1109P,NMNAT1P3,GCNT1P3,RN7SKP296,LINC02013,CCT6P4,PYDC2,RN7SKP222,FGF12-AS2,FGF12-AS3,RNU1-20P,VEZF1P1,ATP13A5-AS1,ATP13A4-AS1,RN7SL447P,LINC02038,DPPA2P3,HES1,RN7SL215P,RNU6-1101P,RPL23AP93,TMEM44-AS1,FAM43A,LINC01972,XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,RNU7-18P,TM4SF19-AS1,RNU6-910P,RNU6-1279P,RN7SL434P,RN7SL738P,UBXN7-AS1,RPS29P3,LINC01063,RNU6-646P,RNU4-89P,RNU6-42P,NCBP2-AS1,NCBP2-AS2,MIR4797,DLG1-AS1,LINC02012,MIR922,RNU6-858P,RNU6-621P,LMLN-AS1,RNU6-821P,FRG2FP,TRA2B,NMRAL2P,ETV5,LINC02020,LINC02052,TBCCD1,DNAJB11,AHSG,HRG,KNG1,PSMD10P2,RFC4,ADIPOQ,MASP1,LINC02041,BCL6,LINC01991,LPP-AS2,LPP-AS1,P3H2-AS1,CLDN16,GMNC,UTS2B,HRASLS,OPA1-AS1,LINC02028,LINC02048,LINC00887,CPN2,LRRC15,GP5,ATP13A3,TMEM44,XXYLT1-AS2,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,LINC00885,ZDHHC19,TCTEX1D2,TM4SF19-TCTEX1D2,TM4SF19,UBXN7,SMCO1,WDR53,FBXO45,NRROS,PIGX,CEP19,PAK2,NCBP2,PIGZ,RPSAP69,RUBCN,FYTTD1,LRCH3,RPL35A,LMLN,ANKRD18DP,DGKG,ST6GAL1,RPL39L,TPRG1,P3H2,CLDN1,TMEM207,IL1RAP,OSTN,OSTN-AS1,CCDC50,FGF12,FGF12-AS1,MB21D2,ATP13A5,ATP13A4,OPA1,LINC02036,LINC02037,LINC00884,LSG1,LINC01968,XXYLT1,ACAP2,MUC20-OT1,SLC51A,PCYT1A,RNF168,SENP5,MELTF,MELTF-AS1,BDH1,IQCG,FETUB,LPP,TP63,LINC02026,DLG1
yingjun_17_ASD_discovery_cases-case1471
N/A (Validation of some CNVs by FISH or qPCR was described, but the identity of validated CNVs was not reported)
Unknown
Unknown
Unknown
EIF2S2P2,MIR5588,MIR548AQ,ETV5-AS1,LINC02051,CRYGS,RNU6-1105P,GPS2P2,EIF4A2,SNORD2,MIR1248,SNORA81,SNORA63,SNORA4,LINC02043,ADIPOQ-AS1,RPS20P14,RTP1,RTP4,SST,RTP2,FLJ42393,MIR28,TPRG1-AS1,TPRG1-AS2,MIR944,MTAPP2,RNU6-1109P,NMNAT1P3,GCNT1P3,RN7SKP296,LINC02013,CCT6P4,PYDC2,RN7SKP222,FGF12-AS2,FGF12-AS3,RNU1-20P,VEZF1P1,ATP13A5-AS1,ATP13A4-AS1,RN7SL447P,LINC02038,DPPA2P3,HES1,RN7SL215P,RNU6-1101P,RPL23AP93,TMEM44-AS1,FAM43A,LINC01972,XXYLT1-AS1,MIR3137,RN7SL36P,RNU6-25P,RNU6ATAC24P,RN7SL73P,MUC20P1,MIR570,KIF3AP1,MIR6829,TNK2-AS1,RNU2-11P,C3orf70,EHHADH-AS1,RPL4P4,TMEM41A,LIPH,TRA2B,NMRAL2P,ETV5,LINC02020,LINC02052,TBCCD1,DNAJB11,AHSG,HRG,KNG1,PSMD10P2,RFC4,ADIPOQ,MASP1,LINC02041,BCL6,LINC01991,LPP-AS2,LPP-AS1,P3H2-AS1,CLDN16,GMNC,UTS2B,HRASLS,OPA1-AS1,LINC02028,LINC02048,LINC00887,CPN2,LRRC15,GP5,ATP13A3,TMEM44,XXYLT1-AS2,ACAP2-IT1,PPP1R2,APOD,SDHAP2,SMBD1P,MUC20,MUC4,LINC01983,TNK2,SDHAP1,TFRC,VPS8,EHHADH,MAP3K13,IGF2BP2,IGF2BP2-AS1,DGKG,ST6GAL1,RPL39L,TPRG1,P3H2,CLDN1,TMEM207,IL1RAP,OSTN,OSTN-AS1,CCDC50,FGF12,FGF12-AS1,MB21D2,ATP13A5,ATP13A4,OPA1,LINC02036,LINC02037,LINC00884,LSG1,LINC01968,XXYLT1,ACAP2,MUC20-OT1,SENP2,FETUB,LPP,TP63,LINC02026
Controls
No Control Data Available
No Animal Model Data Available