1p34.3-p34.2CNV Type: Deletion
Largest CNV size: 3244000 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
This singleton CNV was identified in an autistic male with mild microcephaly and contains, among other genes, the RIMS3 gene.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication
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
4218885
1
1
2
kumar_10_ASD_discovery_cases
Child with autism and mild microcephaly
1
ASD
10
M
3300000
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
373966
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
kumar_10_ASD_discovery_controls
Control subjects previously used in PMID 18374305 (christian_08_ASD_discovery_controls), from NIMH Genetics Initiative Control sample set, characterized for Axis I disorders
372
Controls
3300000
0
0
0
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
kumar_10_ASD_discovery_cases
Caucasian
aCGH
19K whole genome human BAC array, Illumina 610K-Quad
FISH
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
kumar_10_ASD_discovery_controls
262 Caucasians, 100 African-Maericans
aCGH
19K whole genome human BAC array, Illumina 610K-Quad
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-ISCA00001175
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
38108665
42327551
4218887
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005417
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
39360747
40900817
1540071
GRCh38
Duplication
Yes
kumar_10_ASD_discovery_cases-patientLP99-105
10
M
ASD
Mild microcephaly, poor language and social skills, repetitive behaviors
NA
39556037
42820716
3264680
GRCh38
Deletion
Yes
sajan_13_ACC/CBLH/PMG_discovery_cases-case1308-0
N/A
N/A
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: yes. Seizures: no.
Developmental delay: yes. Intellectual disability: yes.
39079597
39453562
373966
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001175
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01343,RNU6-753P,MYCBP,RNU6-605P,EIF1P2,RNU6-608P,RNA5SP44,HSPE1P8,OXCT2P1,SNORA55,RNU7-121P,OXCT2,MYCL,RNU6-1237P,TMCO2,EXO5,GTF2F2P2,NFYC-AS1,MIR30E,MIR30C1,RN7SL326P,UBE2V1P8,SLFNL1,RPL23AP17,RNA5SP45,GUCA2B,GUCA2A,LINC01685,RRAGC,GJA9-MYCBP,GJA9,AKIRIN1,NDUFS5,BMP8A,PPIEL,PABPC4,HEYL,NT5C1A,HPCAL4,BMP8B,MFSD2A,CAP1,PPT1,ZMPSTE24,COL9A2,ZFP69B,ZFP69,ZNF684,KCNQ4,CITED4,CTPS1,FOXO6,EDN2,HNRNPFP1,RHBDL2,MACF1,PPIE,RLF,SMAP2,RIMS3,NFYC,SLFNL1-AS1,SCMH1,FOXJ3,TRIT1,HIVEP3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005417
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
OXCT2P1,SNORA55,RNU7-121P,OXCT2,MYCL,RNU6-1237P,TMCO2,EXO5,GTF2F2P2,NFYC-AS1,MIR30E,MIR30C1,RN7SL326P,BMP8A,PPIEL,PABPC4,HEYL,NT5C1A,HPCAL4,BMP8B,MFSD2A,CAP1,PPT1,ZMPSTE24,COL9A2,ZFP69B,ZFP69,ZNF684,KCNQ4,CITED4,MACF1,PPIE,RLF,SMAP2,RIMS3,NFYC,TRIT1
kumar_10_ASD_discovery_cases-patientLP99-105
FISH
De novo
NA
NA
SNORA55,RNU7-121P,OXCT2,MYCL,RNU6-1237P,TMCO2,EXO5,GTF2F2P2,NFYC-AS1,MIR30E,MIR30C1,RN7SL326P,UBE2V1P8,SLFNL1,RPL23AP17,RNA5SP45,GUCA2B,GUCA2A,TMSB4XP1,RNU6-536P,CLDN19,PPIEL,PABPC4,HEYL,NT5C1A,HPCAL4,BMP8B,MFSD2A,CAP1,PPT1,ZMPSTE24,COL9A2,ZFP69B,ZFP69,ZNF684,KCNQ4,CITED4,CTPS1,FOXO6,EDN2,HNRNPFP1,RIMKLA,ZMYND12,PPIH,YBX1,P3H1,C1orf50,TMEM269,SVBP,ERMAP,PPIE,RLF,SMAP2,RIMS3,NFYC,SLFNL1-AS1,SCMH1,FOXJ3,PPCS,CCDC30,TRIT1,HIVEP3
sajan_13_ACC/CBLH/PMG_discovery_cases-case1308-0
qPCR
Unknown
Unknown
Unknown
RNU6-608P,RNA5SP44,HSPE1P8,MACF1
Controls
No Control Data Available
No Animal Model Data Available