11p14.1-p12CNV Type: Deletion
Largest CNV size: 11000000 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
A large deletion encompassing this region was identified in a patient with moderate-mild developmental delay/intellectual disability.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Characterization of 11p14-p12 deletion in WAGR syndrome by array CGH for identifying genes contributing to mental retardation and autism.
Deletion
Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, ...
Deletion
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
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
battaglia_13_DD/ID/ASD_discovery_cases
Patients affected by DD/ID/ASD/dysmorphic features of unknown origin observed at the Stella Maris Institute (Pisa, Italy) between May 2004 & December 2011
349
34 cases with borderline intellectual disability, 237 cases with mixed intellectual disability, 78 cases with intellectual disability and ASD (cases referred with a provisional diagnosis of ASD evaluated with ADI-R and ADOS-G)
Range, 5 mos.-19 yrs.
63.9% Male
11000000
1
0
1
chong_14_DD/ID/ASD/MCA_discovery_cases
Patients referred to clinical genetics service and recruited for CMA application study
105
Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
N/A
N/A
9790000
1
0
1
xu_08_WAGR/ASD/DD/ID_discovery_cases
Patients with WAGR syndrome and de novo deletions in the 11p14-p12 region previously detected by FISH
31
All 31 patients diagnosed with WAGR syndrome; neurodevelopmental comorbidities within this cohort include intellectual disability, developmental delay, autism, ADHD, seizures, anxiety, obsessive-compulsive behaviors, and speech delay/speech disorder
Range, 3-46 yrs.
45.16% Male
12200000
4
0
4
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
battaglia_13_DD/ID/ASD_discovery_cases
Italy
aCGH, array SNP
BACs aCGH, Agilent 44K, Agilent 180K, Affymetrix 6.0
FISH, qPCR
chong_14_DD/ID/ASD/MCA_discovery_cases
Chinese
aCGH
High-resolution 180K oligoarray
aCGH (NimbleGen)
xu_08_WAGR/ASD/DD/ID_discovery_cases
N/A
FISH
aCGH (Agilent)
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
battaglia_13_DD/ID/ASD_discovery_cases-case47
5 yrs. 1 mo.
M
Developmental delay/intellectual disability
Autism: no. Epilepsy: no. Dysmorphic features: yes.
Moderate-mild DD/ID
27752866
38846588
11093723
GRCh38
Deletion
Yes
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH5224
N/A
M
MCA
Congenital cataracts, aniridia
29732804
39526227
9793424
GRCh38
Deletion
Yes
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF14a
12 yrs.
F
WAGR syndrome, ASD, ID, and seizures
Autism, anxiety, ADHD, high tolerance to pain, obsessive-compulsive, seizures
Intellectual disability
28023730
40261422
12237693
GRCh38
Deletion
Yes
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF23a
16 yrs.
M
WAGR syndrome, ASD, DD, and ID
Autism, developmental delay, obsessive-compulsive, speech disorder
Intellectual disability
27697511
38257254
10559744
GRCh38
Deletion
Yes
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF4a
23 yrs.
F
WAGR syndrome and ID
Depression, anxiety, ADHD, obsessive-compulsive
Intellectual disability
30330906
37104738
6773833
GRCh38
Deletion
Yes
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseNIH1
26 yrs.
M
WAGR syndrome and ID
Repetitive behavior
Intellectual disability
27714512
37938155
10223644
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
battaglia_13_DD/ID/ASD_discovery_cases-case47
FISH or qPCR
De novo
Unknown
Unknown
CBX3P1,HSP90AA2P,MIR610,RN7SKP158,MIR8068,OR2BH1P,HNRNPRP2,RN7SL240P,RPL7AP58,LINC01616,FSHB,RPL12P30,CYCSP25,EIF4A2P5,HNRNPA3P9,PIGCP1,RPL29P23,C11orf91,FBXO3-DT,CIR1P3,MIR1343,CD44-AS1,KRT18P14,RPL12P31,MIR3973,RPL7AP56,LRRC6P1,ARL14EP,MPPED2-AS1,DNAJC24,PAX6,RCN1,WT1,WT1-AS,EIF3M,PRRG4,TCP11L1,LINC00294,CSTF3-DT,CD59,FBXO3,LMO2,NAT10,ELF5,EHF,CD44,FJX1,COMMD9,TRAF6,RAG2,C11orf74,KIF18A,LINC02546,KCNA4,DCDC1,ELP4,PAUPAR,THEM7P,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,CAPRIN1,ABTB2,CAT,APIP,PDHX,SLC1A2,PAMR1,TRIM44,LDLRAD3,PRR5L,RAG1,LINC01493,METTL15,MPPED2,IMMP1L,KIAA1549L
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH5224
Nimblegen aCGH
De novo
Unknown
Unknown
LINC01616,FSHB,RPL12P30,CYCSP25,EIF4A2P5,HNRNPA3P9,PIGCP1,RPL29P23,C11orf91,FBXO3-DT,CIR1P3,MIR1343,CD44-AS1,KRT18P14,RPL12P31,MIR3973,RPL7AP56,LRRC6P1,RNU6-99P,ARL14EP,MPPED2-AS1,DNAJC24,PAX6,RCN1,WT1,WT1-AS,EIF3M,PRRG4,TCP11L1,LINC00294,CSTF3-DT,CD59,FBXO3,LMO2,NAT10,ELF5,EHF,CD44,FJX1,COMMD9,TRAF6,RAG2,C11orf74,KCNA4,DCDC1,ELP4,PAUPAR,THEM7P,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,CAPRIN1,ABTB2,CAT,APIP,PDHX,SLC1A2,PAMR1,TRIM44,LDLRAD3,PRR5L,RAG1,LINC01493,MPPED2,IMMP1L,KIAA1549L
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF14a
aCGH (Agilent)
De novo
Likely segregated
MIR610,RN7SKP158,MIR8068,OR2BH1P,HNRNPRP2,RN7SL240P,RPL7AP58,LINC01616,FSHB,RPL12P30,CYCSP25,EIF4A2P5,HNRNPA3P9,PIGCP1,RPL29P23,C11orf91,FBXO3-DT,CIR1P3,MIR1343,CD44-AS1,KRT18P14,RPL12P31,MIR3973,RPL7AP56,LRRC6P1,RNU6-99P,ARL14EP,MPPED2-AS1,DNAJC24,PAX6,RCN1,WT1,WT1-AS,EIF3M,PRRG4,TCP11L1,LINC00294,CSTF3-DT,CD59,FBXO3,LMO2,NAT10,ELF5,EHF,CD44,FJX1,COMMD9,TRAF6,RAG2,C11orf74,KIF18A,LINC02546,KCNA4,DCDC1,ELP4,PAUPAR,THEM7P,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,CAPRIN1,ABTB2,CAT,APIP,PDHX,SLC1A2,PAMR1,TRIM44,LDLRAD3,PRR5L,RAG1,LINC01493,METTL15,MPPED2,IMMP1L,LRRC4C,KIAA1549L
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF23a
aCGH (Agilent)
De novo
Likely segregated
CBX3P1,HSP90AA2P,MIR610,RN7SKP158,MIR8068,OR2BH1P,HNRNPRP2,RN7SL240P,RPL7AP58,LINC01616,FSHB,RPL12P30,CYCSP25,EIF4A2P5,HNRNPA3P9,PIGCP1,RPL29P23,C11orf91,FBXO3-DT,CIR1P3,MIR1343,CD44-AS1,KRT18P14,RPL12P31,MIR3973,RPL7AP56,LRRC6P1,ARL14EP,MPPED2-AS1,DNAJC24,PAX6,RCN1,WT1,WT1-AS,EIF3M,PRRG4,TCP11L1,LINC00294,CSTF3-DT,CD59,FBXO3,LMO2,NAT10,ELF5,EHF,CD44,FJX1,COMMD9,TRAF6,RAG2,C11orf74,BDNF-AS,BDNF,KIF18A,LINC02546,KCNA4,DCDC1,ELP4,PAUPAR,THEM7P,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,CAPRIN1,ABTB2,CAT,APIP,PDHX,SLC1A2,PAMR1,TRIM44,LDLRAD3,PRR5L,RAG1,METTL15,MPPED2,IMMP1L,KIAA1549L
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF4a
aCGH (Agilent)
De novo
Likely segregated
RPL12P30,CYCSP25,EIF4A2P5,HNRNPA3P9,PIGCP1,RPL29P23,C11orf91,FBXO3-DT,CIR1P3,MIR1343,CD44-AS1,KRT18P14,RPL12P31,MIR3973,ARL14EP,MPPED2-AS1,DNAJC24,PAX6,RCN1,WT1,WT1-AS,EIF3M,PRRG4,TCP11L1,LINC00294,CSTF3-DT,CD59,FBXO3,LMO2,NAT10,ELF5,EHF,CD44,FJX1,COMMD9,TRAF6,RAG2,C11orf74,DCDC1,ELP4,PAUPAR,THEM7P,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,CAPRIN1,ABTB2,CAT,APIP,PDHX,SLC1A2,PAMR1,TRIM44,LDLRAD3,PRR5L,RAG1,MPPED2,IMMP1L,KIAA1549L
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseNIH1
aCGH (Agilent)
De novo
Likely segregated
CBX3P1,HSP90AA2P,MIR610,RN7SKP158,MIR8068,OR2BH1P,HNRNPRP2,RN7SL240P,RPL7AP58,LINC01616,FSHB,RPL12P30,CYCSP25,EIF4A2P5,HNRNPA3P9,PIGCP1,RPL29P23,C11orf91,FBXO3-DT,CIR1P3,MIR1343,CD44-AS1,KRT18P14,RPL12P31,MIR3973,RPL7AP56,ARL14EP,MPPED2-AS1,DNAJC24,PAX6,RCN1,WT1,WT1-AS,EIF3M,PRRG4,TCP11L1,LINC00294,CSTF3-DT,CD59,FBXO3,LMO2,NAT10,ELF5,EHF,CD44,FJX1,COMMD9,TRAF6,RAG2,C11orf74,BDNF,KIF18A,LINC02546,KCNA4,DCDC1,ELP4,PAUPAR,THEM7P,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,CAPRIN1,ABTB2,CAT,APIP,PDHX,SLC1A2,PAMR1,TRIM44,LDLRAD3,PRR5L,RAG1,METTL15,MPPED2,IMMP1L,KIAA1549L
Controls
No Control Data Available
No Animal Model Data Available