4q34.1-q35.1CNV Type: Deletion-Duplication
Largest CNV size: 15163671 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
CNVs within this region were identified in cases from two recent CNV reports (Kaminsky et al., 2011; Nguyen et al., 2013).
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
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
Duplication
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
15028811
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
9115067
2
0
2
nguyen_13_DD/ID/MCA/ASD_discovery_cases
Patients from the Developmental Gene Anatomy Project at Harvard Medical School (DGAP), the Developmental Gene Discovery Project at Georgia Health Sciences University (DGDP), the National Institute of General Medical Sciences Human Genetic Cell Repository (NIGMS), the Signature Genomic Laboratories Genoglyphix Chromosome Aberration Database, and DECIPHER
57365
Predominant cohort diagnosis of developmental delay/intellectual disability and/or mulitple congenital anomalies (MCA); 5 cases with additional diagnosis of autism/ASD
N/A
N/A
15163671
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
nguyen_13_DD/ID/MCA/ASD_discovery_controls
Control data from the Database of Genomic Variants (DGV, n=12,145) and a published dataset of 8,329 individuals from Moriarty et al., 1998.
20474
Control
N/A
N/A
N/A
N/A
N/A
N/A
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
nguyen_13_DD/ID/MCA/ASD_discovery_cases
N/A
aCGH
SignatureChip BACs aCGH, SignatureChip Oligo whole-genome microarray
FISH
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
nguyen_13_DD/ID/MCA/ASD_discovery_controls
N/A
N/A
N/A
N/A
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
han_22_ASD/DD/ID_discovery_cases-case15D3272
2 yrs. 4 mos.
M
Developmental delay and intellectual disability
Speech delay
Intellectual disability
171139578
186168388
15028811
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001237
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
175013055
181652375
6639321
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002430
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
174080892
183195538
9114647
GRCh38
Deletion
Yes
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC62865
N/A
F
MCA
Database: Signature. Indication for study: Fetal Hydrops, IUFD
175049036
190123121
15074086
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
han_22_ASD/DD/ID_discovery_cases-case15D3272
De novo
CASP3,AGA,SLC25A4,DCTD,ACSL1,PDLIM3,SNORD79,FBXO8,GALNT7,UFSP2,TENM3,NEIL3,CLDN22,CDKN2AIP,CFAP97,STOX2,LRP2BP,SPCS3,HAND2-AS1,TRAPPC11,CENPU,CEP44,WWC2,SNX25,TENM3-AS1,WDR17,ENPP6,WWC2-AS2,SPATA4,ASB5,PRIMPOL,RWDD4,HMGB2,HPGD,ING2,GPM6A,IRF2,CCDC110,AGA-DT,LINC01098,ANKRD37,VTI1BP2,TSEN2P1,MYL12BP2,HELT,RPL5P11,CIBAR1P2,C4orf47,GALNTL6,LINC00290,LINC02363,MIR3945HG,CCNHP1,RANP6,CLDN24,NDUFB5P1,MIR1305,MARK2P4,MIR4276,MIR548T,LINC01093,MIR3945,ADAM20P2,MIR4455,RNA5SP173,GPM6A-DT,LINC02500,LINC01099,LINC02436,LINC02269,WWC2-AS1,LINC02504,LINC02268,LINC02362,MIR6082,LINC02509,LINC02174,TEMN3-AS1,SAP30-DT,LINC02365,LINC02427,RPSAP70,RN7SKP67,RN7SKP136,RNA5SP172,RN7SKP13,RN7SL253P,TLR3,VEGFC,RNU6-335P,RNU6-1096P,RNU6-479P,RN7SL28P,RNU6-1053P,RNU4-64P,RNU1-45P,RNU2-34P,LINC02437,SAP30,GLRA3,SORBS2,SPCS3-AS1,IRF2-DT,HAND2,ADAM29,SCRG1,MORF4,FAM149A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001237
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
TSEN2P1,ADAM20P2,LINC02509,RN7SKP136,RNA5SP172,RNU1-45P,RNA5SP173,NDUFB5P1,LINC02500,MARK2P4,SPATA4,ASB5,SPCS3,AGA,GPM6A,VEGFC,NEIL3,LINC01098,LINC01099,LINC00290,WDR17
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002430
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4276,TSEN2P1,ADAM20P2,LINC02509,RN7SKP136,RNA5SP172,RNU1-45P,RNA5SP173,NDUFB5P1,LINC02500,RN7SKP13,CCNHP1,MIR1305,RNU2-34P,RN7SKP67,FAM92A1P2,WWC2-AS2,FBXO8,HPGD,MARK2P4,SPATA4,ASB5,SPCS3,AGA,TEMN3-AS1,DCTD,LINC02268,CEP44,GLRA3,ADAM29,GPM6A,VEGFC,NEIL3,LINC01098,LINC01099,LINC00290,WWC2,TENM3,WDR17
nguyen_13_DD/ID/MCA/ASD_discovery_cases-GC62865
FISH
Unknown
Unknown
Unknown
TSEN2P1,ADAM20P2,LINC02509,RN7SKP136,RNA5SP172,RNU1-45P,RNA5SP173,NDUFB5P1,LINC02500,RN7SKP13,CCNHP1,MIR1305,RNU2-34P,RN7SKP67,FAM92A1P2,WWC2-AS2,CLDN24,CDKN2AIP,VTI1BP2,ING2,RNU6-479P,RNU6-335P,RNU6-1053P,RN7SL28P,MYL12BP2,SLED1,MIR3945HG,MIR3945,LINC01093,MIR4455,HELT,SLC25A4,ANKRD37,RNU4-64P,RPSAP70,ORAOV1P1,FLJ38576,SLC25A5P6,RNU6-1055P,MRPS36P2,LINC02514,LINC02515,ADAM20P3,ZFP42,RNU6-173P,TRIML1,LINC02434,ICE2P1,RNU7-192P,LINC02508,HSP90AA4P,RNU1-51P,LINC01596,MLLT10P2,TUBB7P,RNA5SP174,RNA5SP175,FRG2,AGGF1P1,CLUHP4,DBET,DUX4L8,DUX4L7,DUX4L6,DUX4L5,DUX4L4,DUX4L1,DUX4L3,DUX4L2,MARK2P4,SPATA4,ASB5,SPCS3,AGA,TEMN3-AS1,DCTD,CLDN22,RWDD4,TRAPPC11,LINC02363,LINC02362,LINC02427,LINC02365,CASP3,CENPU,LINC02437,LRP2BP,UFSP2,C4orf47,PDLIM3,TLR3,CYP4V2,F11,MTNR1A,LINC02374,TRIML2,FRG1,DUX4L9,RARRES2P4,GPM6A,VEGFC,NEIL3,LINC01098,LINC01099,LINC00290,WWC2,WWC2-AS1,STOX2,ENPP6,IRF2,PRIMPOL,ACSL1,LINC02436,CFAP97,SNX25,CCDC110,FAM149A,KLKB1,F11-AS1,LINC02492,LINC01060,LINC01262,TENM3,SORBS2,FAT1,FRG1-DT,WDR17
Controls
No Control Data Available
No Animal Model Data Available