3p25.3-p25.2CNV Type: Deletion
Largest CNV size: 2231393 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Rare singleton deletion within this region was found in a case 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...
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
1352021
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
2231393
1
0
1
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
1900000
1
0
1
sandoval_talamantes_23_ASD_discovery_cases
ASD patients recruited from 2016 to 2019 among patients from the genetic or neuropediatric clinics of La Paz University Hospital (Madrid, Spain).
212
All cases met DSM-5 diagnostic criteria for ASD.
Mean age, 10.73 +/- 6.42 yrs. (median age, 10 yrs.)
87.73% Male
910040
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
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
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
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
sandoval_talamantes_23_ASD_discovery_cases
Spain
aCGH
KaryoArray v.3.0
NA
Agilent CytoGenomics
None
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
cucinotta_23_ASD_discovery_cases-case339
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
10871054
12223074
1352021
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002544
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
10019780
12251358
2231579
GRCh38
Deletion
Yes
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530469
M
Developmental delay
Global developmental delay (HP:0001263)
9710001
11610000
1900000
GRCh38
Deletion
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT169
NA
NA
ASD and intellectual disability
Case met DSM-5 diagnostic criteria for ASD. Case also presented with severe intellectual disability, absent speech, macrocephaly, and joint laxity.
Severe intellectual disability
10934045
11844084
910040
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
cucinotta_23_ASD_discovery_cases-case339
De novo
TAMM41,HRH1,CYCSP12,CHCHD4P4,NUP210P2,ACTG1P12,MARK2P14,SLC6A1-AS1,FANCD2P2,RN7SL147P,SLC6A1,TIMP4,SLC6A11,SYN2,MTCO1P5,VGLL4,ATG7
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002544
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-670P,CYCSP11,LINC00852,MIR378B,MIR885,ATP2B2-IT2,LINC00606,CHCHD4P4,CYCSP12,NUP210P2,RN7SL147P,ACTG1P12,MTCO1P5,BRK1,VHL,TATDN2,GHRL,GHRLOS,SEC13,ATP2B2-IT1,FANCD2P2,MARK2P14,TIMP4,FANCD2,FANCD2OS,IRAK2,SLC6A11,SLC6A1,SLC6A1-AS1,HRH1,VGLL4,TAMM41,SYN2,ATP2B2,ATG7
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530469
Unknown
ATP2B2,FANCD2,GHRL,BRK1,EMC3,CRELD1,CIDEC,LINC00852,IL17RC,JAGN1,IL17RE,FANCD2OS,CIDECP1,CPNE9,IRAK2,HRH1,RPUSD3,PRRT3,LINC00606,CYCSP11,CYCSP10,EMC3-AS1,CHCHD4P4,GHRLOS,MIR885,OGG1,MIR378B,ARPC4-TTLL3,ATP2B2-IT1,ATP2B2-IT2,SLC6A1-AS1,PRRT3-AS1,SLC6A1,VHL,SLC6A11,SEC13,RNU6-670P,RNU6-882P,BRPF1,CAMK1,ARPC4,VGLL4,TATDN2,ATG7,TADA3,TTLL3
sandoval_talamantes_23_ASD_discovery_cases-caseAUT169
Unknown
TAMM41,HRH1,CHCHD4P4,SLC6A1-AS1,SLC6A1,SLC6A11,VGLL4,ATG7
Controls
No Control Data Available
No Animal Model Data Available