1q42.11-q42.12CNV Type: Deletion
Largest CNV size: 1020377 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
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
digregorio_17_DD/ID_discovery_cases
Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
1015
Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
N/A
N/A
2494704
1
0
1
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
709199
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
1020377
1
0
1
spataro_23_ASD/DD/ID_discovery_cases
Individuals from the Clinical Genetics Unit at Parc Tauli Hospital Universitari (Sabadell, Spain) between March 2019 and December 2021.
398
Cases had a clinical diagnosis of autism spectrum disorder (ASD) or global developmental delay/intellectual disability (DD/ID).
Average age, 14.5 +/- 11.2 yrs.
62.06% Male
42145
0
1
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
digregorio_17_DD/ID_discovery_cases
Italian
aCGH
Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
ADM-2
Agilent CGH Analytics software ver. 4.0.81
qPCR
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
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
spataro_23_ASD/DD/ID_discovery_cases
Spain
Targeted gene sequencing
NNDTauliPanel/Illumina MiSeq
NA
XHMM, ExomeDepth
aCGH
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
digregorio_17_DD/ID_discovery_cases-DECIPHER_300648
N/A
M
Developmental delay/intellectual disability
224388747
226883451
2494705
GRCh38
Deletion
Yes
guo_18_ASD/DD/ID_discovery_cases-caseBK-351-03
N/A
M
ASD and learning disabilities
GI problems, cardiac defect
Learning disabilities
224242601
224951800
709200
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000833
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
223882252
224902629
1020378
GRCh38
Deletion
Yes
spataro_23_ASD/DD/ID_discovery_cases-case5
15.8 yrs.
M
Developmental delay, intellectual disability, seizure, and autistic features
Developmental milestones: neurodevelopmental delay (delayed speech and language development). Motor and musculoskeletal evaluation: hypotonia, talipes valgus, joint laxity. Behavioral/psychiatric evaluation: impaired social interactions, obsessive-compulsive behavior, aggressive behavior. Epilepsy/seizures: seizure. Additional medical history: cerebral hemorrhage, hypogonadotropic hypogonadism, hypothyroidism, astigmatism. Dysmorphic features: periauricular skin pits, abnormal facial shape.
Mild intellectual disability
224389737
224431881
42145
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
digregorio_17_DD/ID_discovery_cases-DECIPHER_300648
qPCR
De novo
MIR4742,AKR1B1P1,RNU6-1304P,PYCR2,MIR6741,LEFTY2,NDUFA3P3,LINC01703,MIXL1,YBX1P9,RN7SKP165,CDKN2AIPNLP1,RPS27P5,LBR,SRP9,TMEM63A,LEFTY1,SDE2,H3F3A,ACBD3,ACBD3-AS1,LIN9,STUM,ITPKB,ITPKB-IT1,ITPKB-AS1,CNIH3,DNAH14,ENAH,EPHX1,PARP1,PSEN2,WDR26
guo_18_ASD/DD/ID_discovery_cases-caseBK-351-03
aCGH, Sanger sequencing
De novo
Simplex
Segregated
MIR320B2,RNU6-1008P,MIR4742,AKR1B1P1,CNIH4,NVL,CNIH3,DNAH14,WDR26
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000833
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CICP5,RNU6-1319P,RN7SKP49,MIR320B2,RNU6-1008P,MIR4742,AKR1B1P1,GTF2IP20,DEGS1,CNIH4,FBXO28,NVL,CNIH3,DNAH14,WDR26
spataro_23_ASD/DD/ID_discovery_cases-case5
aCGH
De novo
WDR26,MIR4742
Controls
No Control Data Available
No Animal Model Data Available