15q26.1-q26.2CNV Type: Duplication
Largest CNV size: 1038914 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
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...
Duplication
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
Expanding the genetic and phenotypic spectrum of CHD2-related disease: From early neurodevelopmental disorders to adult-onset epilepsy
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
de_maria_21_DD/ID/EP_discovery_cases
Individual carrying a de novo 15q26.1-q26.2 deletion from a larger cohort of 18 unreported patients with CHD2 variants who were genetically tested at the Anna Meyer Children's Hospital (Florence, Italy).
1
Case presented with developmental delay (DD), moderate intellectual disability (ID), and seizures (EP).
38 yrs.
Female
4626483
1
0
1
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
898000
0
1
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
1069919
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
1038914
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
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
de_maria_21_DD/ID/EP_discovery_cases
Italy
Targeted gene panel sequencing, WES
Illumina NextSeq550
NA
Golden Helix VarSeq
None
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
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
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
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
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
de_maria_21_DD/ID/EP_discovery_cases-case101
38 yrs.
F
Developmental delay, intellectual disability, and seizures
Developmental milestones: motor delay, delayed ability to walk (17 months), delayed language development. Epilepsy/seizures: febrile seizures at onset of 1 year 6 months, followed by generalized tonic-clonic seizures. EEG: generalized spike waves, focal abnormalities prevalent on the frontal and temporal regions.
Moderate intellectual disability
91372752
95999234
4626483
GRCh38
Deletion
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300163
N/A
F
Developmental delay/intellectual disability
93357489
94255258
897770
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005058
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
93198717
94268636
1069920
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-11978.p1
9.1
F
ASD
NA
Full-scale IQ, 111; non-verbal IQ, 109; verbal IQ, 113
93236780
94275694
1038915
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
de_maria_21_DD/ID/EP_discovery_cases-case101
De novo
CHD2,RNU2-3P,SLCO3A1,MCTP2,RGMA,C15orf32,LINC00924,LINC01579,LETR1,FAM174B,DUXAP6,HMGN1P38,H2AZ2P1,ASB9P1,YBX2P2,NPM1P5,LINC00930,ENO1P2,SEPHS1P2,THRAP3P2,MIR3175,CHASERR,LINC02207,LINC01581,LINC01580,LINC02852,ST8SIA2,H3P40
digregorio_17_DD/ID_discovery_cases-DECIPHER_300163
Paternal
LINC02207,LINC01579,LINC01580,LINC01581,MCTP2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005058
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
LINC02207,LINC01579,LINC01580,LINC01581,MCTP2
sanders_11_ASD_discovery_cases-11978.p1
Paternal
Simplex (trio)
NA
LINC02207,LINC01579,LINC01580,LINC01581,MCTP2
Controls
No Control Data Available
No Animal Model Data Available