8q24.21-q24.3CNV Type: Duplication
Largest CNV size: 16943299 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
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
Minor Reports
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
16943299
0
1
1
werling_19_ASD_discovery_cases
Children and adolescents with high-functioning autism (defined as IQ 70) recruited at the Departments of Child and Adolescent Psychiatry and Psychotherapy, University Hospitals of Psychiatry Zurich, Switzerland and of the University of Wurzburg, Germany
108
Cases fulfilled diagnostic criteria for ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10; diagnosis confirmed using either ADOS or ADI-R
Range, 5-18 yrs (mean, 11.29 3.3 yrs.)
86.11% Male
8633895
1
0
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
werling_19_ASD_discovery_cases
Europe
Array SNP
Affymetrix CytoScan HD
Affymetrix ChAS
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-ISCA00000841
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
128220912
145049449
16828538
GRCh38
Duplication
Yes
werling_19_ASD_discovery_cases-caseA044
10 yrs.
M
ASD and OCD
Case diagnosed with ASD according to DSM-5 and for pervasive developmental disorder according to ICD-10 (F84.5); diagnosis confirmed using either ADOS or ADI-R (ADOS score 6; ADI-R A/B/C/D scores 12/12/6/3). Behavioral/psychiatric evaluation: obsessive-compulsive disorder. Additional medical history: congenital hypothyroidism.
IQ score 87 (SON-R)
130397167
139031061
8633895
GRCh38
Deletion
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-ISCA00000841
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RN7SKP206,MIR3686,MTRF1LP2,RNU7-181P,MIR5194,RNU6-1255P,ASAP1-IT2,MIR7848,ST13P6,MTND2P7,MTCO1P49,ZFAT-AS1,MIR30B,MIR30D,RPL23AP56,MAPRE1P1,RNU1-35P,RNU6-144P,ZYXP1,C8orf17,CHRAC1,ERICD,MIR151A,RNA5SP278,LINC01300,MIR1302-7,MIR4472-1,LINC00051,RN7SL260P,ARC,THEM6,SLURP1,LYPD2,SLURP2,LYNX1,ZNHIT1P1,CYP11B1,CDC42P3,LY6E,AK3P2,LY6H,GPIHBP1,GLI4,MINCR,RNU6-220P,RHPN1-AS1,MAFA-AS1,RN7SKP175,MROH6,NAPRT,TIGD5,TSTA3,BREA2,CCDC166,FAM83H,MIR4664,MIR937,MIR6845,MIR661,GRINA,SMPD5,OPLAH,MIR6846,EXOSC4,MIR6847,GPAA1,SHARPIN,MAF1,HGH1,TSSK5P,MIR7112,SCX,MIR6848,SCRT1,TMEM249,FBXL6,MIR939,MIR1234,MIR6849,SLC39A4,MIR6893,TONSL-AS1,MFSD3,RECQL4,C8orf82,RPL8,MIR6850,TMED10P1,ZNF252P-AS1,OC90,HHLA1,TMEM71,NCRNA00250,KCNK9,PEG13,AGO2,GPR20,MROH5,HNRNPA1P38,MROH4P,JRK,PSCA,LY6K,LNCOC1,LYNX1-SLURP2,LY6D,CYP11B2,C8orf31,LY6L,ZNF696,TOP1MT,RHPN1,MAFA,GSDMD,EEF1D,PYCR3,ZNF707,MAPK15,SCRIB,PUF60,NRBP2,EPPK1,PARP10,SPATC1,CYC1,WDR97,BOP1,DGAT1,SLC52A2,ADCK5,CPSF1,VPS28,CYHR1,KIFC2,FOXH1,PPP1R16A,GPT,LRRC14,LRRC24,ZNF251,ZNF34,RN7SL395P,ZNF517,COMMD5,ZNF250,ZNF16,ZNF252P,LINC00824,GSDMC,FAM49B,ASAP1,ADCY8,EFR3A,KCNQ3,HPYR1,LRRC6,PHF20L1,TG,SLA,NDRG1,ST3GAL1,ZFAT,KHDRBS3,COL22A1,TRAPPC9,PTK2,DENND3,SLC45A4,PTP4A3,TSNARE1,ADGRB1,GML,LY6E-DT,ZFP41,ZC3H3,IQANK1,PLEC,MROH1,HSF1,TONSL,ARHGAP39,ZNF7,CCDC26,LINC01591,LINC02055,FAM135B,ZNF623
werling_19_ASD_discovery_cases-caseA044
Unknown
MIR7848,ST13P6,MTND2P7,MTCO1P49,ZFAT-AS1,MIR30B,MIR30D,RPL23AP56,MAPRE1P1,RNU1-35P,RNU6-144P,ZYXP1,OC90,HHLA1,TMEM71,CCN4,ASAP1,ADCY8,EFR3A,KCNQ3,HPYR1,LRRC6,PHF20L1,TG,SLA,NDRG1,ST3GAL1,ZFAT,KHDRBS3,COL22A1,LINC01591,LINC02055,FAM135B
Controls
No Control Data Available
No Animal Model Data Available