11p15.1-p12CNV Type: Deletion
Largest CNV size: 23000000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A de novo deletion of this chromosomal region was identified in a female patient presenting with WAGR syndrome 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
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
17400000
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
23000000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
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
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530539
F
No phenotypic information provided
21010001
38410000
17400000
GRCh38
Deletion
No
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF24a
16 yrs.
F
WAGR syndrome and ID
Obsessive-compulsive
Intellectual disability
20062297
43093793
23031497
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
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530539
Unknown
CAT,BDNF,MPPED2,CD44,CD59,FANCF,CSTF3,ELF5,ELP4,FBXO3,EHF,COMMD9,WT1-AS,APIP,LIN7C,TCP11L1,LGR4,TRIM44,NAT10,SLC17A6,PRR5L,QSER1,PRRG4,ANO3,KIF18A,CCDC34,DEPDC7,CYCSP25,DNAJC24,IFTAP,ARL14EP,KRT18P14,LDLRAD3,MUC15,ANO5,CBX3P1,IMMP1L,SLC5A12,METTL15,HSP90AA2P,FSHB,GAS2,LINC00294,SVIP,DCDC1,CSTF3-DT,LUZP2,FIBIN,OR2BH1P,RPL36AP40,CCDC73,BDNF-AS,RPL29P23,WIZP1,RPL7AP58,MIR610,THAP12P4,KCNA4,LMO2,PAX6,CAPRIN1,NELL1,C11orf91,MMADHCP2,RPL7AP56,RPL12P30,RPL12P31,DNAAF11P1,HNRNPA3P9,HNRNPRP2,CCDC179,ATP5MGP8,MIR3973,RNA5SP337,RNA5SP338,RNA5SP339,MIR1343,LINC00678,RAG2,RCN1,RAG1,PIGCP1,FBXO3-DT,MIR8054,MIR8087,LINC01495,MIR8068,BBOX1-AS1,PAUPAR,LINC02721,LINC02699,LINC02546,LINC02726,LINC02760,ANO3-AS1,LINC02755,LINC02686,LINC02707,LINC02742,LGR4-AS1,LINC02718,ARL14EP-DT,LINC02722,MPPED2-AS1,LINC02758,LINC01616,RN7SL240P,SLC1A2,TRAF6,THEM7P,RNU6-783P,RN7SKP158,EIF4A2P5,CIR1P3,SLC1A2-AS1,CD44-AS1,PDHX,BBOX1,WT1,SLC17A6-DT,HIPK3,EIF3M,KIAA1549L,ABTB2,FJX1,PAMR1
xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF24a
aCGH (Agilent)
De novo
Likely segregated
NAV2-AS1,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,C11orf91,FBXO3-DT,CIR1P3,MIR1343,CD44-AS1,KRT18P14,RPL12P31,MIR3973,RPL7AP56,LRRC6P1,RNU6-99P,RNU6-365P,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,CD59,FBXO3,LMO2,NAT10,ELF5,EHF,CD44,FJX1,COMMD9,TRAF6,RAG2,C11orf74,PRMT3,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,SLC1A2,PAMR1,TRIM44,LDLRAD3,PRR5L,RAG1,LINC01493,LINC01499,NAV2,NELL1,ANO5,METTL15,MPPED2,IMMP1L,LRRC4C,KIAA1549L
Controls
No Control Data Available
No Animal Model Data Available