2q32.3-q33.1CNV Type: Duplication
Largest CNV size: 179145 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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Duplication
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
4030778
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
179145
0
1
1
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
169265
0
1
1
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
5903000
1
0
1
zarate_21_DD/ID_discovery_cases
Individuals with Glass syndrome resulting from deletions involving the SATB2 gene
10
All patients presented with developmental delay/intellectual disability (DD/ID), while two patients also presented with epilepsy.
Range, 2-9 yrs.
50.0% Male
8720318
3
0
3
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
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
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
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
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
zarate_21_DD/ID_discovery_cases
NA
aCGH, array SNP
Agilent 44K, Agilent 180K, OGT CytoSure 60K, Affymetrix
FISH
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
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001046
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
194515159
198545937
4030779
GRCh38
Deletion
Yes
levy_11_ASD_discovery_cases-11046.p1
NA
M
ASD
NA
NA
196499336
196678480
179145
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11046.p1
6.6
M
Autism
NA
Full-scale IQ, 71; non-verbal IQ, 82; verbal IQ, 62
196500221
196669486
169266
GRCh38
Duplication
No
sansovic_17_DD/ID/ASD_discovery_cases-case11
5 yrs.
M
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies, Dysmorphism
193122513
199025037
5902525
GRCh38
Deletion
No
zarate_21_DD/ID_discovery_cases-caseSATB2-156
5 yrs.
M
Developmental delay/intellectual disability
Developmental milestones: developmental delay/intellectual disability. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: sleeping difficulties, jovial personality, hyperactivity, aggressive outbursts. Brain MRI: abnormal. Additional medical history: feeding difficulties in infancy, strabismus.
Developmental delay/intellectual disability
193900711
199571874
5671164
GRCh38
Deletion
Yes
zarate_21_DD/ID_discovery_cases-caseSATB2-185
2 yrs.
M
Developmental delay/intellectual disability
Developmental milestones: developmental delay/intellectual disability, delayed ability to walk (1 year 10 months), speech delay (first words at 2 years 2 months) followed by loss of speech. Language and communication evaluation: currently non-verbal. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: sleeping difficulties, aggressive outbursts. Additional medical history: feeding difficulties in infancy and at 2 years. Dysmorphic features: dental problems (large teeth, abnormal shape, dental crowding). Growth parameters: decreased body weight (<3rd %ile), microcephaly.
Developmental delay/intellectual disability
191641509
200361826
8720318
GRCh38
Deletion
Yes
zarate_21_DD/ID_discovery_cases-caseSATB2-189
8 yrs.
M
Developmental delay/intellectual disability
Birth/neonatal history: small for gestational age (birth weight Z-score -2.07). Developmental milestones: developmental delay/intellectual disability, delayed ability to walk (1 year 8 months). Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: jovial personality, aggressive outbursts. Additional medical history: feeding difficulties in infancy, strabismus. Dysmorphic features: dental problems (abnormal shape, dental crowding). Growth parameters: decreased body weight (<3rd %ile).
Developmental delay/intellectual disability
191957720
200168268
8210549
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001046
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-169P,LINC01825,LINC01827,AHCYP5,RNU6-915P,E2F3P2,RN7SL820P,C2orf66,HNRNPA3P15,NPM1P46,RNU6-1029P,HSPE1,LINC01790,STK17B,GTF3C3,COQ10B,HSPD1,MARS2,BOLL,SLC39A10,DNAH7,HECW2,CCDC150,PGAP1,ANKRD44-IT1,ATP5MC2P3,SF3B1,HSPE1-MOB4,MOB4,RFTN2,LINC01923,ANKRD44,PLCL1
levy_11_ASD_discovery_cases-11046.p1
Maternal
Simplex
Segregated
HECW2,CCDC150
sanders_11_ASD_discovery_cases-11046.p1
Maternal
Simplex (quad-proband matched)
Segregated
HECW2,CCDC150
sansovic_17_DD/ID/ASD_discovery_cases-case11
De novo
GLULP6,HNRNPA1P47,RNU6-169P,LINC01825,LINC01827,AHCYP5,RNU6-915P,E2F3P2,RN7SL820P,C2orf66,HNRNPA3P15,NPM1P46,RNU6-1029P,HSPE1,LINC01790,STK17B,GTF3C3,COQ10B,HSPD1,MARS2,BOLL,LINC01821,SLC39A10,DNAH7,HECW2,CCDC150,PGAP1,ANKRD44-IT1,ATP5MC2P3,SF3B1,HSPE1-MOB4,MOB4,RFTN2,LINC01923,ANKRD44,PLCL1
zarate_21_DD/ID_discovery_cases-caseSATB2-156
FISH
Unknown
HECW2,DNAH7,SLC39A10,BOLL,PGAP1,COQ10B,ANKRD44,MARS2,RFTN2,SATB2-AS1,HSPE1,HSPD1,CCDC150,GLULP6,AHCYP5,C2orf66,NPM1P46,HNRNPA1P47,RPL4P7,E2F3P2,ATP5MC2P3,HSPE1-MOB4,HECW2-AS1,LINC01821,LINC01790,ANKRD44-IT1,LINC01923,ANKRD44-AS1,PLCL1,LINC01827,HNRNPA3P15,RNU6-1029P,RNU6-169P,RN7SL820P,RNU7-147P,RNU6-915P,LINC01825,GTF3C3,STK17B,MOB4,SF3B1,SATB2
zarate_21_DD/ID_discovery_cases-caseSATB2-185
FISH
Unknown
HECW2,DNAH7,SLC39A10,PCGEM1,BOLL,NABP1,MAIP1,PGAP1,COQ10B,ANKRD44,MARS2,RFTN2,TYW5,SATB2-AS1,DNAJB1P1,C2orf69,HSPE1,HSPD1,CCDC150,GLULP6,FTCDNL1,AHCYP5,C2orf66,DNAJC17P1,NPM1P46,SEPHS1P6,RPS17P8,HNRNPA1P47,RPL4P7,SLC44A3P1,E2F3P2,ATP5MC2P3,HSPE1-MOB4,LINC01877,HECW2-AS1,LINC01821,LINC01790,ANKRD44-IT1,LINC01923,ANKRD44-AS1,PLCL1,LINC01827,CAVIN2-AS1,NABP1-OT1,HNRNPA3P15,RNU6-1029P,RNU6-169P,RN7SL820P,RNU7-147P,RN7SL717P,RNU6-915P,SEC61GP1,LINC01825,CAVIN2,GTF3C3,STK17B,SPATS2L,TMEFF2,MOB4,SF3B1,SATB2
zarate_21_DD/ID_discovery_cases-caseSATB2-189
FISH
Unknown
HECW2,DNAH7,SLC39A10,PCGEM1,BOLL,MAIP1,PGAP1,COQ10B,ANKRD44,MARS2,RFTN2,TYW5,SATB2-AS1,C2orf69,HSPE1,HSPD1,CCDC150,GLULP6,FTCDNL1,AHCYP5,C2orf66,DNAJC17P1,NPM1P46,SEPHS1P6,RPS17P8,HNRNPA1P47,RPL4P7,SLC44A3P1,E2F3P2,ATP5MC2P3,HSPE1-MOB4,LINC01877,HECW2-AS1,LINC01821,LINC01790,ANKRD44-IT1,LINC01923,ANKRD44-AS1,PLCL1,LINC01827,CAVIN2-AS1,HNRNPA3P15,RNU6-1029P,RNU6-169P,RN7SL820P,RNU7-147P,RN7SL717P,RNU6-915P,SEC61GP1,LINC01825,GTF3C3,STK17B,TMEFF2,MOB4,SF3B1,SATB2
Controls
No Control Data Available
No Animal Model Data Available