1p31.3-p31.1CNV Type: Deletion
Largest CNV size: 4685102 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
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
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Diagnostic yield of patients with undiagnosed intellectual disability
Deletion
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
4685102
1
0
1
leite_22_DD/ID_discovery_cases
Individuals from a retrospective cross-sectional study, from 2013 to 2017, which included a representative subset of a population composed by patients who were physically examined and clinically diagnosed with intellectual disability, global developmental delay, and/or multiple congenital anomalies by assistant physicians from the state public health service of Gois.
369
Cases presented with global developmental delay/intellectual disability (DD/ID) with or without multiple congenital anomalies.
93.2% of cases under 18 yrs.
47.4% Male
10887787
1
0
1
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
14000768
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
leite_22_DD/ID_discovery_cases
Brazil
CMA
Thermofisher GeneChip CytoScanHD
NA
ThermoFisher ChAS v.3.0
None
sajan_13_ACC/CBLH/PMG_discovery_cases
81.31% Caucasian
Solid phase hybridization
Illumina InfiniumII HumanHap610
PennCNV
qPCR
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-ISCA00001989
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
67239704
71924806
4685103
GRCh38
Deletion
Yes
leite_22_DD/ID_discovery_cases-case011
8 yrs.
F
Developmental delay
Global developmental delay, behavioral disorder, multiple stigmas
68227445
79115231
10887787
GRCh38
Deletion
No
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
N/A
N/A
ACC-PMG
Diagnosis of agenesis of the corpus callosum (ACC) and polymicrogyria (PMG). ASD: N/A. Seizures: N/A.
Developmental delay: yes. Intellectual disability: N/A.
60998153
74998908
14000756
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-ISCA00001989
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU4ATAC4P,RNU6-387P,LINC01702,RNU6-1031P,RN7SL392P,HNRNPCP9,GADD45A,RNU7-80P,DIRAS3,ARL5AP3,CTBP2P8,MIR1262,RPS7P4,COX6B1P7,ELOCP18,TXNP2,SGO1P1,RN7SL538P,PIN1P1,RN7SL242P,CASP3P1,MIR186,SERBP1,RPE65,DEPDC1,DEPDC1-AS1,LINC01758,LRRC40,SRSF11,ANKRD13C,HHLA3,CTH,ZRANB2-AS1,ZRANB2,IL23R,IL12RB2,GNG12,LINC01707,LRRC7,LINC01788,PTGER3,NEGR1,NEGR1-IT1,GNG12-AS1,WLS,ZRANB2-AS2
leite_22_DD/ID_discovery_cases-case011
De novo
ACADM,CTH,DLSTP1,CRYZ,AK5,SNORD45B,SNORD45A,TNNI3K,GIPC2,LRRC40,DEPDC1,LRRC7,ADGRL4,ST6GALNAC5,WLS,ANKRD13C,NEXN,LRRIQ3,KRT8P21,ASB17,TYW3,ERICH3,RPS7P4,TXNP2,SLC44A5,ST6GALNAC3,NEGR1,LINC02796,NEXN-AS1,MIGA1,CHORDC1P5,MIR186,LHX8,SNORD45C,TPI1P1,PSAT1P3,ELOCP18,MSH4,RNU7-8P,RNFT1P2,ACTG1P21,ZRANB2-AS1,CASP3P1,COX6B1P7,RPL31P12,GDI2P2,NSRP1P1,FPGT-TNNI3K,SGO1P1,RNA5SP21,RNA5SP23,RNA5SP20,NEGR1-IT1,RNA5SP22,DEPDC1-AS1,LINC01360,LINC01788,ERICH3-AS1,RPE65,PTGER3,PTGFR,RABGGTB,PIN1P1,MIR7156,HHLA3-AS1,LRRC53,LINC02797,LINC01758,LINC01707,LINC02791,LRRC7-AS1,RN7SKP19,RNA5SP50,RNU6-622P,RNU6-503P,RNU6-161P,RNU6-1246P,HSPE1P25,RNU4ATAC8P,RN7SL242P,RN7SL370P,RN7SL538P,RNU6-1102P,LINC02238,LINC02567,FPGT,FUBP1,ZRANB2,PIGK,SRSF11,DNAJB4,IFI44L,IFI44,HHLA3,USP33,ZZZ3
sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR01-282
qPCR
De novo
Unknown
Unknown
NFIA-AS1,RNU6-414P,RNU6-1177P,LAMTOR5P1,RN7SL180P,MIR3116-1,MIR3116-2,PIGPP2,RPS15AP7,RNU6-371P,RNA5SP49,RPSAP65,MIR6068,RN7SL488P,RNU7-123P,DLEU2L,RN7SL130P,CFL1P3,RNU6-809P,RNU7-62P,MIR4794,SLC2A3P2,RNU6-1176P,MIR3671,MIR101-1,MRPS21P1,RPS29P7,COX6CP13,RNU2-15P,RN7SL854P,RNU4-88P,MIR3117,INSL5,RNU6-586P,RNU4ATAC4P,RNU6-387P,LINC01702,RNU6-1031P,RN7SL392P,HNRNPCP9,GADD45A,RNU7-80P,DIRAS3,ARL5AP3,CTBP2P8,MIR1262,RPS7P4,COX6B1P7,ELOCP18,TXNP2,SGO1P1,RN7SL538P,PIN1P1,RN7SL242P,CASP3P1,MIR186,GDI2P2,RPL31P12,RNU6-1246P,RN7SKP19,RNA5SP50,RNU4ATAC8P,TM2D1,L1TD1,USP1,ANGPTL3,ATG4C,LINC01739,FOXD3-AS1,FOXD3,ALG6,PGM1,ROR1-AS1,LINC01359,AK4,LEPROT,TCTEX1D1,SLC35D1,SERBP1,RPE65,DEPDC1,DEPDC1-AS1,LINC01758,LRRC40,SRSF11,ANKRD13C,HHLA3,CTH,ZRANB2-AS1,ZRANB2,KRT8P21,LINC01360,FPGT,LRRC53,TYW3,NFIA,KANK4,DOCK7,LINC00466,ITGB3BP,EFCAB7,UBE2U,CACHD1,RAVER2,JAK1,DNAJC6,LEPR,SGIP1,WDR78,MIER1,IL23R,IL12RB2,GNG12,LINC01707,LRRC7,LINC01788,PTGER3,NEGR1,NEGR1-IT1,LINC02238,LRRIQ3,ERICH3,ERICH3-AS1,CRYZ,PATJ,ROR1,PDE4B,GNG12-AS1,WLS,ZRANB2-AS2,FPGT-TNNI3K,TNNI3K,C1orf141
Controls
No Control Data Available
No Animal Model Data Available