17p11.2-p11.1CNV Type: Deletion-Duplication
Largest CNV size: 421334 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
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion-Duplication
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
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
658051
1
0
1
rosenfeld_10_ASD_discovery_cases
Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
1461
ASD
421334
1
1
2
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
300287
0
1
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
1415869
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
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
rosenfeld_10_ASD_discovery_cases
aCGH
BACs aCGH, whole-genome oligo-aCGH
FISH
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
None (not tested or failure to confirm by qPCR)
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004643
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
21628048
22706494
1078447
GRCh38
Deletion
Yes
rosenfeld_10_ASD_discovery_cases-case14335
NA
NA
ASD
NA
NA
21765799
22187133
421334
Unknown
Duplication
Yes
rosenfeld_10_ASD_discovery_cases-case23647
NA
NA
ASD
NA
NA
21765799
22187133
421334
Unknown
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-037
N/A
N/A
PMG
Diagnosis of polymicrogyria (PMG).
22374143
22701708
327566
GRCh38
Duplication
No
sandoval_talamantes_23_ASD_discovery_cases-caseAUT175
NA
NA
ASD
Case met DSM-5 diagnostic criteria for ASD.
21290626
22706494
1415869
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004643
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
KCNJ18,FTLP13,FAM27E5,MTCYBP13,MTRNR2L1,MTND1P15,MTND2P13,NMTRS-TGA3-1,MTATP6P3,MTCO3P13,NCOR1P2,LINC02002,UBBP4,FLJ36000
rosenfeld_10_ASD_discovery_cases-case14335
FISH
Paternal
Unknown
Unknown
MTRNR2L1
rosenfeld_10_ASD_discovery_cases-case23647
FISH
Maternal
Unknown
Unknown
MTRNR2L1
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR07-037
Not tested by qPCR
Unknown
Unknown
Unknown
MTCYBP13,MTRNR2L1,MTND1P15,MTND2P13,NMTRS-TGA3-1,MTATP6P3,MTCO3P13,FLJ36000
sandoval_talamantes_23_ASD_discovery_cases-caseAUT175
Paternal
FAM27E5,LINC02693,NCOR1P2,RPL21P120,KCNJ12,KCNJ18,NMTRS-TGA3-1,MTND1P15,PDLIM1P2,FTLP13,MTRNR2L1,MTND2P13,MAP2K3,LINC02002,MTATP6P3,MTCO3P13,MTCYBP13,MTND6P35,UBBP4
Controls
No Control Data Available
No Animal Model Data Available