4q22.1-q22.2CNV Type: Duplication
Largest CNV size: 1558032 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Rare singleton duplication 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...
Duplication
Deletions in GRID2 lead to a recessive syndrome of cerebellar ataxia and tonic upgaze in humans.
Deletion
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
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
hills_13_DD/ID_discovery_cases
Affected individuals from two families (one consanguineous, one non-consanguineous) presenting with a syndrome causing cerebellar ataxia, eye movement abnormalities, and delayed speech and cognitive development
4
Developmental delay/intellectual disability (speech delay and cognitive delay), cerebellar ataxia, eye movement abnormalities (tonic upgaze, nystagmus)
Range, 4 yrs 3 mos-14 yrs 1 mo
25% Male
335000
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
1558032
0
1
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
3057999
0
1
1
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
Samples with neurodevelopmental disorders (NDDs) mostly from the province of Ontario, Canada
2691
1,838 cases diagnosed with ASD, 427 with ADHD, 204 with schizophrenia, and 222 with OCD
76.37% Male
3060065
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
hills_13_DD/ID_discovery_cases
Jordanian (3 cases), Mexican (1 case)
aCGH
Agilent 8x60K custom microarray
eArray
qPCR
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
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases
74.1% European
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS, iPattern, BioDiscovery Nexus, Partek Genomics Suite
RT-qPCR or WGS
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
hills_13_DD/ID_discovery_cases-caseCH-5401
4 yrs. 3 mos.
F
Developmental delay/intellectual disability
Developmental milestones: single words at 1.5 years; rolled over at 12 months, sat without support at 36 months. Language and communication evaluation: currently speaks in 2-word sentences (since age of 2.5 years), understands one-step commands. Motor and musculoskeletal evaluation: just started walking with support; normal muscle tone; truncal and appendicular ataxia. Abnormal eye movements: occasional tonic upgaze, bursts of horizontal hystagmus. Brain imaging: progressive atrophy of cerebellar vermis and hemispheres observed on brain MRI. Growth parameters: head circumference of 49 cm (30th %ile). Family history: non-consanguineous family of Mexican heritage (CH-5400).
Developmental delay/intellectual disability
92491792
92826931
335140
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001295
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
92513191
94071223
1558033
GRCh38
Duplication
Yes
yuen_17_ASD_discovery_cases-case1-0787-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: N/A
89926850
92984849
3058000
GRCh38
Duplication
Yes
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0787-003
N/A
M
ASD
Primary diagnosis: ASD. Additional phenotype(s): no additional phenotypes reported
89923900
92983964
3060065
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
hills_13_DD/ID_discovery_cases-caseCH-5401
qPCR
De novo
Simplex
Segregated (as part of compound heterozygous GRID2 deletion)
MTND1P19,GRID2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001295
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MTND1P19,RNA5SP164,ATOH1,GRID2
yuen_17_ASD_discovery_cases-case1-0787-003
Affymetrix CytoScan HD
Unknown
Simplex
Unknown
RN7SKP248,TMSB4XP8,KRT19P6,PMPCAP1,MTND1P19,MMRN1,CCSER1,GRID2,LNCPRESS2
zarrei_19_ASD/ADHD/OCD/SCZ_discovery_cases-case1-0787-003
RT-qPCR or WGS
Unknown
RN7SKP248,TMSB4XP8,KRT19P6,PMPCAP1,MTND1P19,MMRN1,CCSER1,GRID2,LNCPRESS2
null
Controls
No Control Data Available
No Animal Model Data Available