11p15.1-p13CNV Type: Deletion
Largest CNV size: 14400000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
De novo deletions spanning this region were observed in two unrelated patients presenting with WAGR syndrome; both of these cases also presented with autism and intellectual disability (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
14400000
2
0
2
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-caseNIH2
19 yrs.
M
WAGR syndrome, ASD, and ID
Autism
Intellectual disability
20157499
33635879
13478381
GRCh38
Deletion
Yes
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseNIH9
7 yrs.
F
WAGR syndrome, ASD, and ID
Autism
Intellectual disability
20781438
35146409
14364972
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-caseNIH2
aCGH (Agilent)
De novo
Likely segregated
DBX1,HMGB1P40,RNA5SP336,RNA5SP337,FANCF,RNA5SP338,WIZP1,MIR8054,RNU6-783P,RPL36AP40,MUC15,FIBIN,LIN7C,MIR8087,RNA5SP339,CBX3P1,HSP90AA2P,MIR610,RN7SKP158,MIR8068,OR2BH1P,HNRNPRP2,RN7SL240P,RPL7AP58,LINC01616,FSHB,RPL12P30,CYCSP25,EIF4A2P5,HNRNPA3P9,PIGCP1,RPL29P23,HTATIP2,SLC6A5,SLC17A6,LINC01495,SVIP,CCDC179,THAP12P4,SLC5A12,BBOX1,CCDC34,LINC00678,ARL14EP,MPPED2-AS1,DNAJC24,PAX6,RCN1,WT1,WT1-AS,EIF3M,PRRG4,TCP11L1,LINC00294,CSTF3-DT,PRMT3,GAS2,LUZP2,ANO3,BBOX1-AS1,LGR4,BDNF-AS,BDNF,KIF18A,LINC02546,KCNA4,DCDC1,ELP4,PAUPAR,THEM7P,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,NELL1,ANO5,METTL15,MPPED2,IMMP1L,KIAA1549L
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseNIH9
aCGH (Agilent)
De novo
Likely segregated
RNA5SP336,RNA5SP337,FANCF,RNA5SP338,WIZP1,MIR8054,RNU6-783P,RPL36AP40,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,SLC17A6,LINC01495,SVIP,CCDC179,THAP12P4,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,GAS2,LUZP2,ANO3,BBOX1-AS1,LGR4,BDNF-AS,BDNF,KIF18A,LINC02546,KCNA4,DCDC1,ELP4,PAUPAR,THEM7P,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,CAPRIN1,ABTB2,CAT,APIP,PDHX,NELL1,ANO5,METTL15,MPPED2,IMMP1L,KIAA1549L
Controls
No Control Data Available
No Animal Model Data Available