11p14.2-p12CNV Type: Deletion
Largest CNV size: 14200000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
De novo deletions spanning this region were observed in four unrelated patients presenting with WAGR syndrome and additional diagnosis of ASD (Xu et al., 2008).
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
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
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
14200000
4
0
4
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
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF19a
5 yrs.
M
WAGR syndrome, ASD, DD, and ID
Autism, developmental delay, speech disorder
Intellectual disability
26721352
36779756
10058405
GRCh38
Deletion
Yes
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF6a
21 yrs.
F
WAGR syndrome, ASD, DD, and ID
Developmental delay, autism, anxiety, obsessive-compulsive, speech disorder, seizures
Mild intellectual disability, developmental delay
27203768
36779756
9575989
GRCh38
Deletion
Yes
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseNIH11
4 yrs.
M
WAGR syndrome, ASD, and ID
Autism
Intellectual disability
26712655
37363497
10650843
GRCh38
Deletion
Yes
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseNIH6
17 yrs.
M
WAGR syndrome, ASD, and ID
Autism, anxiety, ADHD
Intellectual disability
26027011
40195976
14168966
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
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF19a
aCGH (Agilent)
De novo
Likely segregated
FIBIN,LIN7C,MIR8087,RNA5SP339,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,SLC5A12,BBOX1,CCDC34,LINC00678,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,BBOX1-AS1,LGR4,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-caseF6a
aCGH (Agilent)
De novo
Likely segregated
LIN7C,MIR8087,RNA5SP339,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,CCDC34,LINC00678,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,BBOX1-AS1,LGR4,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-caseNIH11
aCGH (Agilent)
De novo
Likely segregated
FIBIN,LIN7C,MIR8087,RNA5SP339,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,SLC5A12,BBOX1,CCDC34,LINC00678,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,BBOX1-AS1,LGR4,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-caseNIH6
aCGH (Agilent)
De novo
Likely segregated
MUC15,FIBIN,LIN7C,MIR8087,RNA5SP339,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,RNU6-99P,SLC5A12,BBOX1,CCDC34,LINC00678,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,ANO3,BBOX1-AS1,LGR4,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,LINC01493,METTL15,MPPED2,IMMP1L,LRRC4C,KIAA1549L
Controls
No Control Data Available
No Animal Model Data Available