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11p13-p11.2CNV Type: Deletion


Largest CNV size: 11296245 bp

Statistics Box:
Number of Reports: 2



Summary Information

Rare singleton deletion within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).

Additional Locus Information

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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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
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
 kaminsky_11_DD/ID/ASD_discovery_cases
 Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
 15749
 Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
 NA
 NA
 11296245
 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
 14900000
 2
 0
 2

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 kaminsky_11_DD/ID/ASD_discovery_controls
 Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
 10118
 Controls
 NA
 NA
 NA
 NA
 NA
 NA

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 kaminsky_11_DD/ID/ASD_discovery_cases
  NA
 aCGH
  Agilent 44K, Agilent 105K
 
 Feature Extraction, DNA Analytics
 FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
 xu_08_WAGR/ASD/DD/ID_discovery_cases
  N/A
 FISH
 
 
 
 aCGH (Agilent)

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  kaminsky_11_DD/ID/ASD_discovery_controls
  NA
  aCGH
  Agilent 44K, Agilent 105K
 
  Feature Extraction, DNA Analytics
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002711
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 35663578
 46959820
  11296243
 GRCh38
 Deletion
 Yes
  xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF10a
 7 yrs.
 F
 WAGR syndrome, DD and ID
 Developmental delay, speech disorder, anxiety, obsessive-compulsive
 Intellectual disability, developmental delay
 31306291
 46216744
  14910454
 GRCh38
 Deletion
 Yes
  xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF3a
 26 yrs.
 F
 WAGR syndrome, ID, and seizures
 Speech disorder, depression, seizures
 Intellectual disability
 31306291
 44234152
  12927862
 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
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002711
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 De novo
 Unknown
 Unknown
 KRT18P14,RPL12P31,MIR3973,RPL7AP56,LRRC6P1,RNU6-99P,RNU6-365P,RN7SKP287,CTBP2P6,MIR670,MIR670HG,RPL23AP63,PHBP2,SEC14L1P1,ALKBH3-AS1,C11orf96,RPL34P22,MIR7154,DKFZp779M0652,C11orf94,PEX16,MIR4688,CHRM4,MIR3160-1,MIR3160-2,ZNF408,MIR5582,SNORD67,COMMD9,TRAF6,RAG2,C11orf74,API5,PPIAP41,MIR129-2,ACCSL,ACCS,TP53I11,SYT13,CHST1,SLC35C1,MAPK8IP1,LARGE2,CREB3L1,DGKZ,MDK,HARBI1,ARHGAP1,F2,LRP4-AS1,LRP4,TRIM44,LDLRAD3,PRR5L,RAG1,LINC01493,LINC01499,HNRNPKP3,TTC17,HSD17B12,ALKBH3,EXT2,ALX4,CD82,TSPAN18,PRDM11,CRY2,PHF21A,LINC02489,AMBRA1,ATG13,CKAP5,C11orf49,LRRC4C
 
 xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF10a
 aCGH (Agilent)
 
 De novo
 
 Likely segregated
 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,C11orf94,PEX16,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,MAPK8IP1,LARGE2,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,PHF21A,IMMP1L,LRRC4C,KIAA1549L
 
 xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF3a
 aCGH (Agilent)
 
 De novo
 
 Likely segregated
 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,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,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,IMMP1L,LRRC4C,KIAA1549L
 

Controls

No Control Data Available
No Animal Model Data Available
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