21q22.13-q22.3CNV Type: Deletion
Largest CNV size: 6600000 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
The precise breakpoints for this large deletion, identified in a female with PDD-NOS and moderate intellectual disability, were not provided in the original report; as such, the exact gene content of this deletion is unknown.
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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
9820550
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
6600000
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
8347461
2
0
2
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
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
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
han_22_ASD/DD/ID_discovery_cases-case16D0758
10 mos. 6 days
F
Developmental delay/Intellectual disability
Facial dysmorphism
36856911
46677460
9820550
GRCh38
Deletion
No
jacquemont_06_ASD_discovery_cases-patient9
28 yrs.
F
PDD-NOS
Fulfilled DSM-IV criteria for PDD-NOS. Postnatal growth retardation. Facial dysmorphism. Family history: history of mental retardation or ASD.
Moderate mental retardation (MR)
NA
NA
6600000
Unknown
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001007
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
37135738
42434515
5298778
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003781
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
38273492
46670405
8396914
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
han_22_ASD/DD/ID_discovery_cases-case16D0758
De novo
PTTG1IP,CFAP410,AIRE,CBS,ADARB1,ERG,CRYAA,ETS2,COL6A2,DYRK1A,COL6A1,CSTB,DSCAM,DNMT3L,RIPPLY3,UBASH3A,PIGP,ZBTB21,C21orf58,LINC00111,TSPEAR-AS1,BRWD1,RIPK4,MYL6P1,SLC37A1,PCBP3,TSPEAR,YBEY,RPL31P1,FAM3B,H2AZP1,LINC00112,IMMTP1,AGPAT3,PRDM15,TMPRSS3,LRRC3,SPATC1L,COL18A1,LINC01547,DSCR8,ERVH48-1,RSPH1,UMODL1,SLX9,B3GALT5-AS1,TSPEAR-AS2,MCM3AP-AS1,LINC00313,LINC00334,LINC00479,IGSF5,LCA5L,ZNF295-AS1,UMODL1-AS1,SIK1,PLAC4,HLCS,ITGB2,HMGN1,PRMT2,DSCR9,LINC00319,DSCR10,LINC00315,BACE2-IT1,LINC00323,AATBC,MRPL51P2,KRTAP12-2,KRTAP10-3,KRTAP12-3,COL18A1-AS1,KRTAP12-4,KRTAP12-1,KRTAP10-2,KRTAP10-5,KRTAP10-8,KRTAP10-6,KRTAP10-12,RPL18AP2,KRTAP10-7,KRTAP10-11,KRTAP10-10,PICSAR,DSTNP1,LINC00316,MRPL20P1,KRTAP10-1,KRTAP10-9,KRTAP10-4,RPL23AP12,LINC00114,LINC00205,DPRXP5,SSR4P1,RPS26P4,LINC00163,LINC00165,LINC00322,JCADP1,PCBP3-AS1,NDUFV3,KCNJ6,MX1,MX2,LSS,KCNJ15,RNF6P1,METTL21AP1,MIR3197,MYL6P2,ITGB2-AS1,DSCAM-AS1,MIR4760,TIMM9P2,YRDCP3,MTND6P21,MTND5P1,MIR5692B,FTCD-AS1,MTCO1P3,DIP2A-IT1,LRRC3-DT,SNRPGP13,COL18A1-AS2,PSMA6P3,TTC3-AS1,KRTAP10-13P,TMEM97P1,RPSAP64,RNA5SP492,SPATA20P1,DSCR4-IT1,BRWD1-AS1,DSCAM-IT1,PCBP2P1,S100B,PFKL,PCNT,SNORA62,PKNOX1,PDE9A,PCP4,PWP2,LINC01424,LINC01671,LINC01668,LINC01679,PDE9A-AS1,LINC01700,TRPM2-AS,MIR6814,MIR6070,MIR6508,MIR6815,BRWD1-AS2,LINC01423,PCSEAT,DNMT3L-AS1,KCNJ6-AS1,LINC01694,LINC01678,TFF2,TFF3,TRAPPC10,TMPRSS2,SUMO3,TTC3,SLC19A1,TFF1,TRPM2,U2AF1,SH3BGR,UBE2G2,RNU6-696P,RNU6-1150P,RN7SL678P,RNU6-396P,BRWD1-IT1,FRGCA,MTCYBP21,GET1-SH3BGR,RNU6-1149P,RNU6-859P,LINC02575,KRTAP12-6P,MCM3AP,PDXK,RRP1,GET1,PSMG1,ABCG1,HSF2BP,WDR4,B3GALT5,VPS26C,DSCR4,FTCD,POFUT2,ICOSLG,BACE2,C2CD2,RRP1B,DIP2A
jacquemont_06_ASD_discovery_cases-patient9
PCR, FISH
De novo
Unknown
Unknown
NA
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001007
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DSCR9,RN7SL678P,KCNJ6-AS1,DSCR4-IT1,SPATA20P1,LINC01423,SNRPGP13,LINC00114,RPSAP64,RPL23AP12,PCBP2P1,PSMG1,TIMM9P2,BRWD1-IT1,METTL21AP1,BRWD1-AS2,HMGN1,RNF6P1,MIR6508,MYL6P2,RPS26P4,MIR4760,DSCAM-AS1,YRDCP3,LINC00323,MIR3197,PLAC4,BACE2-IT1,LINC00112,MIR6814,ZNF295-AS1,RNA5SP492,TFF3,TFF2,TFF1,RNU6-1149P,TTC3-AS1,DSCR10,ETS2,LINC01700,WRB,LCA5L,B3GALT5-AS1,IGSF5,PCP4,DSCAM-IT1,BACE2,FAM3B,MX2,MX1,TMPRSS2,LINC00479,RIPK4,ZBTB21,UMODL1-AS1,TMPRSS3,UBASH3A,TTC3,VPS26C,DYRK1A,DSCR4,DSCR8,KCNJ15,ERG,BRWD1,BRWD1-AS1,WRB-SH3BGR,SH3BGR,B3GALT5,DSCAM,LINC00111,PRDM15,UMODL1,ABCG1,KCNJ6,C2CD2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003781
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01423,SNRPGP13,LINC00114,RPSAP64,RPL23AP12,PCBP2P1,PSMG1,TIMM9P2,BRWD1-IT1,METTL21AP1,BRWD1-AS2,HMGN1,RNF6P1,MIR6508,MYL6P2,RPS26P4,MIR4760,DSCAM-AS1,YRDCP3,LINC00323,MIR3197,PLAC4,BACE2-IT1,LINC00112,MIR6814,ZNF295-AS1,RNA5SP492,TFF3,TFF2,TFF1,RNU6-1149P,ERVH48-1,MIR5692B,MRPL51P2,FRGCA,LINC00322,LINC01679,RPL31P1,MIR6070,CSTB,TMEM97P1,MYL6P1,RNU6-859P,RNU6-1150P,H2AFZP1,LINC01678,LRRC3-DT,LRRC3,MTCYBP21,MTND6P21,MTND5P1,LINC02575,TSPEAR-AS2,KRTAP10-1,KRTAP10-2,KRTAP10-3,KRTAP10-5,KRTAP10-6,KRTAP10-7,KRTAP10-8,KRTAP10-9,KRTAP10-10,KRTAP10-11,KRTAP12-4,KRTAP12-3,KRTAP12-2,IMMTP1,KRTAP12-1,KRTAP12-6P,KRTAP10-12,KRTAP10-13P,LINC01424,LINC01547,LINC00165,PICSAR,LINC00205,LINC00316,MTCO1P3,COL18A1-AS2,COL18A1-AS1,MIR6815,PSMA6P3,FTCD-AS1,YBEY,RPL18AP2,RNU6-396P,S100B,DSTNP1,ETS2,LINC01700,WRB,LCA5L,B3GALT5-AS1,IGSF5,PCP4,DSCAM-IT1,BACE2,FAM3B,MX2,MX1,TMPRSS2,LINC00479,RIPK4,ZBTB21,UMODL1-AS1,TMPRSS3,UBASH3A,RSPH1,SLC37A1,LINC01671,LINC01668,NDUFV3,CBS,U2AF1,CRYAA,SIK1,LINC00319,LINC00313,RRP1B,PDXK,RRP1,AATBC,PWP2,ICOSLG,DNMT3L,AIRE,CFAP410,TRPM2-AS,TSPEAR-AS1,KRTAP10-4,UBE2G2,SUMO3,PTTG1IP,ITGB2,ITGB2-AS1,LINC00163,SSR4P1,LINC00334,POFUT2,LINC00315,SLC19A1,LINC01694,COL6A1,COL6A2,SPATC1L,LSS,MCM3AP-AS1,C21orf58,DIP2A-IT1,KCNJ15,ERG,BRWD1,BRWD1-AS1,WRB-SH3BGR,SH3BGR,B3GALT5,DSCAM,LINC00111,PRDM15,UMODL1,ABCG1,PDE9A,WDR4,HSF2BP,AGPAT3,GATD3A,PFKL,TRPM2,TSPEAR,FAM207A,COL18A1,PCBP3,MCM3AP,PCNT,DIP2A,PRMT2,PKNOX1,TRAPPC10,ADARB1,FTCD,C2CD2
Controls
No Control Data Available
No Animal Model Data Available