8p23.1-p22CNV Type: Duplication
Largest CNV size: 10000000 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Duplications within this region, including two de novo duplications, overlapping with the LONRF1 gene were identified in three cases (one with ASD, mental retardation, and epilepsy; two with developmental delay/intellectual disability) (Kaminsky et al., 2011; Cabras et al., 2012).
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
Cryptic chromosome rearrangements in five patients, with normal and/or abnormal karyotypes, associated with mental retardation, autism and/or epile...
Duplication
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Duplication
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cabras_12_ASD/MR/EP_discovery_cases
Patients with normal and/or abnormal karyotypes and dysmorphic features, associated with mental retardation, autism, and/or epilepsy
10
ASD, mental retardation (MR), and/or epilepsy (EP)
NA
NA
10000000
0
1
1
girirajan_13a_ASD_discovery_cases
1979 simplex cases from the Simons Simplex Collection (SSC), 579 multiplex cases from AGRE.
2588
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
NA
NA
1732845
0
1
1
girirajan_13a_DD_discovery_cases
Data from individuals with developmental delay derived from two published reports (Cooper et al., 2011 & Kaminsky et al., 2011)
31518
Developmental delay
NA
NA
0
0
0
0
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
815382
0
2
2
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
1441607
0
1
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
980000
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
2128065
0
1
1
girirajan_13a_ASD_discovery_controls3
Controls assessed for CNVs within 120 SD-mediated hotspots; includes 2090 controls from Wellcome Trust Case-Control Consortium (girirajan_13_ASD_discovery_controls2)
8329
Control
NA
NA
0
0
0
0
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
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cabras_12_ASD/MR/EP_discovery_cases
European
Karyotyping, aCGH
BACs aCGH (Cytochips Bluegnome)
Bluefuse Cytochip software
FISH
girirajan_13a_ASD_discovery_cases
NA
aCGH
Custom microarray with a high density of probes targeted to 1,367 regions with a susceptible genomic architecture
ADM-2
Agilent Genomic Workbench
aCGH (NimbleGen 135K array)
girirajan_13a_DD_discovery_cases
NA
N/A
N/A
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
girirajan_13a_ASD_discovery_controls3
NA
Array SNP
N/A
None
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
cabras_12_ASD/MR/EP_discovery_cases-case1
9 yrs.
M
Autism and mental retardation
Autism, epilepsy, dysmorphic features
Mental retardation
7873151
17971525
10000000
Unknown
Duplication
Yes
girirajan_13a_ASD_discovery_cases-13700.p1
N/A
N/A
ASD
Diagnosis of ASD based on meeting criteria on the Autism Diagnostic Observation Schedule (ADOS) and on the Autism Diagnostic Interview, Revised (ADI-R)
N/A
12692481
14425326
1732846
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005070
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12383108
12809999
426892
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005323
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
12728904
13544286
815383
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13700.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
12723095
14164702
1441608
GRCh38
Duplication
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown206
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as pathogenic
12673749
13653749
980001
GRCh38
Deletion
No
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
engchuan_15_ASD_discovery_controls-controlHABC_900057_900057
N/A
N/A
Control
No previous psychiatric history
12610667
14738732
2128066
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
cabras_12_ASD/MR/EP_discovery_cases-case1
FISH
De novo
Unknown
Possibly segregated
SGK223,CLDN23,MFHAS1,ERI1,PPP1R3B,TNKS,MSRA,PRSS55,RP1L1,C8orf74,SOX7,PINX1,XKR6,MTMR9,SLC35G5,FAM167A,BLK,GATA4,NEIL2,FDFT1,CTSB,DEFB136,DEFB135,DEFB134,LOC100133267,DEFB130,ZNF705D,USP17L7,USP17L2,FAM86B1,FAM86B2,LONRF1,KIAA1456,DLC1,C8orf48,SGCZ,TUSC3,MSR1,FGF20,EFHA2,ZDHHC2,CNOT7,VPS37A,MTMR7,SLC7A2,PDGFRL,MTUS1,FGL1,PCM1,ASAH1
girirajan_13a_ASD_discovery_cases-13700.p1
aCGH (NimbleGen 135K array)
Maternal
Simplex
Unknown
OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,LONRF1,LINC00681,TRMT9B,DLC1,SGCZ
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005070
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
DEFB109A,FAM90A25P,ALG1L12P,RPS3AP34,RPS3AP35,OR7E8P,OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,FAM66A,FAM86B2,LONRF1,LINC00681,ENPP7P6
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005323
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-842P,MTND4P7,RNA5SP255,LONRF1,LINC00681,TRMT9B,DLC1
krumm_15_ASD_discovery_cases-case13700.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
MIR3926-1,MIR3926-2,RNU6-842P,MTND4P7,RNA5SP255,C8orf48,LONRF1,LINC00681,TRMT9B,DLC1,SGCZ
maini_18_ASD/DD/ID_discovery_cases-case_unknown206
De novo
Unknown
Unknown
OR7E8P,OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,RNU6-842P,MTND4P7,RNA5SP255,C8orf48,LONRF1,LINC00681,TRMT9B,DLC1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_900057_900057
Unknown
RPS3AP35,OR7E8P,OR7E15P,OR7E10P,MIR5692A2,MIR3926-1,MIR3926-2,RNU6-842P,MTND4P7,RNA5SP255,C8orf48,EIF4EP5,RNU7-153P,RNU6-397P,LONRF1,LINC00681,TRMT9B,DLC1,SGCZ
No Animal Model Data Available