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11p14.1-p11.2CNV Type: Deletion


Largest CNV size: 18200000 bp

Statistics Box:
Number of Reports: 1



Summary Information

A de novo deletion of this chromosomal region was identified in a male patient presenting with WAGR syndrome and intellectual disability (Xu et al., 2008).

Additional Locus Information

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USCS Symbol             NCBI Symbol

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Decipher Symbol                         Decipher Symbol

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
 18200000
 1
 0
 1

Controls

No Control Data Available

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 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
  xu_08_WAGR/ASD/DD/ID_discovery_cases-caseNIH10
 6 yrs.
 M
 WAGR syndrome and ID
 Intellectual disability
 Intellectual disability
 27678577
 45880625
  18202049
 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-caseNIH10
 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,RNU6-99P,RNU6-365P,RN7SKP287,CTBP2P6,MIR670,MIR670HG,RPL23AP63,PHBP2,SEC14L1P1,ALKBH3-AS1,C11orf96,RPL34P22,MIR7154,DKFZp779M0652,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,API5,PPIAP41,MIR129-2,ACCSL,ACCS,TP53I11,SYT13,CHST1,SLC35C1,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,HNRNPKP3,TTC17,HSD17B12,ALKBH3,EXT2,ALX4,CD82,TSPAN18,PRDM11,CRY2,METTL15,MPPED2,IMMP1L,LRRC4C,KIAA1549L
 

Controls

No Control Data Available
No Animal Model Data Available
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