8p21.2-p12CNV Type: Deletion
Largest CNV size: 6364014 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton deletion 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...
Deletion
Genetic Analysis of Children With Unexplained Developmental Delay and/or Intellectual Disability by Whole-Exome Sequencing
Deletion
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
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
6364014
1
0
1
xiang_21_ASD/DD/ID_discovery_cases
Children with unexplained developmental delay/intellectual disability referred to the Affiliated Suzhou Hospital of Nanjing Medical University (Suzhou, China) from January 2018 to March 2021.
17
All cases presented with developmental delay/intellectual disability (DD/ID), while a subset of cases also presented with autism spectrum disorder (ASD).
Range, 2-9 yrs. (mean, 5.6 yrs.)
88.235% Male
6456954
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
xiang_21_ASD/DD/ID_discovery_cases
China
WES
Illumina NovaSeq 6000
NA
XHMM, PCA, CNVKit
CNV-seq
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-ISCA00005383
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
24910364
31210737
6300374
GRCh38
Deletion
Yes
xiang_21_ASD/DD/ID_discovery_cases-caseP15
7 yrs.
M
Developmental delay and intellectual disability
Prenatal hydrocephalus, global developmental delay, retrognathia, strabismus
Mild intellectual disability
25327352
31784305
6456954
GRCh38
Deletion
Yes
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-ISCA00005383
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
NEFM,MIR6841,MIR6876,GNRH1,RNA5SP258,COX6B1P4,MIR548H4,MIR6842,MIR6843,RNU6-1086P,MIR3622B,MIR3622A,RNU6-1276P,MIR4287,RPL5P22,RNU6-178P,MIR4288,RNA5SP259,EXTL3-AS1,INTS9-AS1,RNA5SP260,HMGB1P23,RPL17P33,MIR3148,MAP2K1P1,RNU6-1218P,RPS15AP24,MBOAT4,HSPA8P11,PPIAP84,TUBBP1,RBPMS-AS1,SMIM18,RNU5A-3P,SUMO2P16,NEFL,CDCA2,SDAD1P1,PNMA2,ADRA1A,STMN4,TRIM35,CHRNA2,GULOP,CLU,CCDC25,PBK,PNOC,ZNF395,HMBOX1-IT1,DUSP4,LINC00589,LINC02209,SARAF,DCTN6,GTF2E2,GSR,UBXN8,TEX15,PURG,DOCK5,KCTD9,EBF2,PPP2R2A,BNIP3L,DPYSL2,PTK2B,EPHX2,SCARA3,ESCO2,SCARA5,NUGGC,ELP3,FBXO16,FZD3,EXTL3,INTS9,HMBOX1,KIF13B,LINC02099,LEPROTL1,PPP2CB,WRN,RBPMS
xiang_21_ASD/DD/ID_discovery_cases-caseP15
CNV-seq
De novo
CHRNA2,ADRA1A,CLU,BNIP3L,EPHX2,DPYSL2,EXTL3,PTK2B,DUSP4,MAP2K1P1,SCARA3,PURG,SARAF,ELP3,KCTD9,CCDC25,PBK,INTS9,ZNF395,TEX15,EBF2,HMBOX1,STMN4,DOCK5,TUBBP1,CDCA2,SDAD1P1,ESCO2,FBXO16,GTF2E2,GNRH1,GSR,NRG1,GULOP,SCARA5,PSME2P5,LINC02209,RPL5P22,HSPA8P11,NUGGC,KCTD9P6,MBOAT4,LINC00589,RPL17P33,RPS15AP24,RBPMS-AS1,DNAJB6P2,MIR548H4,MIR3622A,MIR4287,MIR3148,MIR4288,COX6B1P4,MIR3622B,SMIM18,RNA5SP259,RNA5SP261,RNA5SP260,RNA5SP258,RNU5A-3P,HMGB1P23,PNOC,PPP2CB,PPP2R2A,LINC02099,EXTL3-AS1,MIR6842,MIR6876,MIR6843,RNU6-1218P,RNU6-178P,SUMO2P16,RNU6-1086P,HMBOX1-IT1,RNU6-1276P,INTS9-AS1,PPIAP84,FZD3,UBXN8,WRN,DCTN6-DT,HIKESHIP3,DCTN6,PNMA2,RBPMS,KIF13B,LEPROTL1,TRIM35
Controls
No Control Data Available
No Animal Model Data Available