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11p14.1-p13CNV Type: Deletion


Largest CNV size: 2400000 bp

Statistics Box:
Number of Reports: 4



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Pax6 3' deletion results in aniridia, autism and mental retardation.
Deletion
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
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 davis_08_ASD/ID_discovery_cases
 Only child of non-consanguineous parents whose mother presented with aniridia and a history of major depression, anxiety, and social awkwardness but was not diagnosed with autism
 1
 Case diagnosed with autism at University of Washington, Seattle (diagnostic tools N/A); case also presented with intellectual disability (behavioral problems prevented valid IQ testing) and aniridia
 13 yrs.
 Male
 1354359
 1
 0
 1
 engchuan_15_ASD_discovery_cases
 Samples from the Autism Genome Project (AGP)
 1892
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 N/A
 85.78% Male
 60499
 1
 0
 1
 tzetis_12_DD/ID_discovery_cases
 Patients referred for aCGH analysis from 2008-present
 334
 Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
 Range, 1 month-38 years (median age of 4 years)
 
 2400000
 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
 6300000
 6
 0
 6

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 engchuan_15_ASD_discovery_controls
 Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
 2342
 Controls; subjects had no previous psychiatric history
 N/A
 46.67% Male
 0
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 davis_08_ASD/ID_discovery_cases
  N/A
 FISH
 
 
 
 Array SNP (Affymetrix 250K NspI)
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 tzetis_12_DD/ID_discovery_cases
  Greece
 aCGH
  Agilent 244K, Agilent 4x180K
 ADM-1
 Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
 None
 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
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  davis_08_ASD/ID_discovery_cases-case1
 13 yrs.
 M
 Autism
 Case diagnosed with autism at University of Washington, Seattle (diagnostic tools N/A). Birth/neonatal history: unremarkable pregnancy and birth history; 37-week gestation; birth weight of 5 lb 12 oz.; case brought back to hospital three days after birth due to weight loss and decreased temperature; bilateral complete aniridia present from birth; described as colicky as an infant. Developmental milestones: sat at 5 months, crawled at 8-9 months, walked at 12-13 months, first words at 10 months and developed roughly a dozen words; language regressed at age of 2 years and was noverbal by 36 months; as an toddler and young child, case displayed arm flapping, toe walking, spinning, little to no eye contact, did not engage in pretend play but instead engaged in extensive ritualistic lining and organizing of toys and objects, did not engage peers or adults socially, although was affectionate with parents. Language and communication evaluation: nonverbal. Behavioral/psychiatric evaluation: described as rigid and routine bound; periods of hyperactivity and constant vocalization (most often humming Christmas tunes and inappropriate laughter); disruptive and slef-injurious behavior (treated with Abilify 10 mg daily); not described as aggressive towards others; severe compulsions including hair pulling; impulsive without regards to consequences; severe sleep disturbance (treated with 0.2 mg Clonidine and 75 mg Trazodone nightly); remarkably high pain tolerance; strong preference for soft and extremely spicy foods; Pica behaviors. Brain imaging: brain MRI at age of 13 years was unremarkable for gross cortical malformations. Dysmorphic features: sebaceous nevus on scalp midline. Family history: only child of non-consanguineous parents; mother presented with aniridia and a history of major depression, anxiety, and social awkwardness but was not diagnosed with autism (DNA not available for testing).
 Significantly delayed intellectual development; behavioral problems prevented valid IQ testing, although adaptive behaviors as reported by teachers and parents were consistent with moderate intellectual disability
 30426451
 31780809
  1354359
 GRCh38
 Deletion
 Yes
  engchuan_15_ASD_discovery_cases-case8538_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 31020192
 31080691
  60500
 GRCh38
 Deletion
 No
  tzetis_12_DD/ID_discovery_cases-case30
 2 yrs.
 M
 DD/ID
 Aniridia, cryptorchidism, wilms tumor
 
 30076425
 32444489
  2368065
 GRCh38
 Deletion
 No
  xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF12a
 3 yrs.
 F
 WAGR syndrome and DD
 Speech disorder, anxiety
 Developmental delay
 28270342
 33673046
  5402705
 GRCh38
 Deletion
 Yes
  xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF2a
 9 yrs.
 M
 WAGR syndrome, ASD, and ID
 Autism, ADHD, obsessive-compulsive, speech disorder
 Intellectual disability
 28023730
 33881898
  5858169
 GRCh38
 Deletion
 Yes
  xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF5a
 3 yrs.
 F
 WAGR syndrome and DD
 Developmental delay
 Developmental delay
 28706505
 34984712
  6278208
 GRCh38
 Deletion
 Yes
  xu_08_WAGR/ASD/DD/ID_discovery_cases-caseNIH4
 11 yrs.
 F
 WAGR syndrome and ID
 Intellectual disability
 Intellectual disability
 29576990
 34481741
  4904752
 GRCh38
 Deletion
 Yes
  xu_08_WAGR/ASD/DD/ID_discovery_cases-caseNIH5
 9 yrs.
 M
 WAGR syndrome, ASD, and ID
 Autism, obsessive-compulsive
 Intellectual disability
 27795774
 34020871
  6225098
 GRCh38
 Deletion
 Yes
  xu_08_WAGR/ASD/DD/ID_discovery_cases-caseNIH7
 2 yrs.
 F
 WAGR syndrome and DD
 Mild developmental delay
 Mild developmental delay
 28243494
 33701710
  5458217
 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
 davis_08_ASD/ID_discovery_cases-case1
 Array SNP (Affymetrix 250K NspI)
 Maternal
 Unknown (not paternal)
 Multi-generational
 Unknown
 CYCSP25,MPPED2-AS1,DNAJC24,DCDC1,ELP4,MPPED2,IMMP1L
 
 engchuan_15_ASD_discovery_cases-case8538_201
 
 
 Unknown
 
 
 DCDC1
 
 tzetis_12_DD/ID_discovery_cases-case30
 
 
 De novo
 Unknown
 
 FSHB,RPL12P30,CYCSP25,EIF4A2P5,ARL14EP,MPPED2-AS1,DNAJC24,PAX6,RCN1,WT1,WT1-AS,DCDC1,ELP4,PAUPAR,THEM7P,MPPED2,IMMP1L
 
 xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF12a
 aCGH (Agilent)
 
 De novo
 
 Likely segregated
 MIR8068,OR2BH1P,HNRNPRP2,RN7SL240P,RPL7AP58,LINC01616,FSHB,RPL12P30,CYCSP25,EIF4A2P5,HNRNPA3P9,PIGCP1,RPL29P23,ARL14EP,MPPED2-AS1,DNAJC24,PAX6,RCN1,WT1,WT1-AS,EIF3M,PRRG4,TCP11L1,LINC00294,CSTF3-DT,LINC02546,KCNA4,DCDC1,ELP4,PAUPAR,THEM7P,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,METTL15,MPPED2,IMMP1L,KIAA1549L
 
 xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF2a
 aCGH (Agilent)
 
 De novo
 
 Likely segregated
 MIR610,RN7SKP158,MIR8068,OR2BH1P,HNRNPRP2,RN7SL240P,RPL7AP58,LINC01616,FSHB,RPL12P30,CYCSP25,EIF4A2P5,HNRNPA3P9,PIGCP1,RPL29P23,C11orf91,FBXO3-DT,ARL14EP,MPPED2-AS1,DNAJC24,PAX6,RCN1,WT1,WT1-AS,EIF3M,PRRG4,TCP11L1,LINC00294,CSTF3-DT,CD59,FBXO3,LMO2,KIF18A,LINC02546,KCNA4,DCDC1,ELP4,PAUPAR,THEM7P,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,METTL15,MPPED2,IMMP1L,KIAA1549L
 
 xu_08_WAGR/ASD/DD/ID_discovery_cases-caseF5a
 aCGH (Agilent)
 
 De novo
 
 Likely segregated
 OR2BH1P,HNRNPRP2,RN7SL240P,RPL7AP58,LINC01616,FSHB,RPL12P30,CYCSP25,EIF4A2P5,HNRNPA3P9,PIGCP1,RPL29P23,C11orf91,FBXO3-DT,CIR1P3,MIR1343,ARL14EP,MPPED2-AS1,DNAJC24,PAX6,RCN1,WT1,WT1-AS,EIF3M,PRRG4,TCP11L1,LINC00294,CSTF3-DT,CD59,FBXO3,LMO2,NAT10,ELF5,EHF,LINC02546,KCNA4,DCDC1,ELP4,PAUPAR,THEM7P,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,CAPRIN1,ABTB2,CAT,APIP,PDHX,MPPED2,IMMP1L,KIAA1549L
 
 xu_08_WAGR/ASD/DD/ID_discovery_cases-caseNIH4
 aCGH (Agilent)
 
 De novo
 
 Likely segregated
 HNRNPRP2,RN7SL240P,RPL7AP58,LINC01616,FSHB,RPL12P30,CYCSP25,EIF4A2P5,HNRNPA3P9,PIGCP1,RPL29P23,C11orf91,FBXO3-DT,CIR1P3,ARL14EP,MPPED2-AS1,DNAJC24,PAX6,RCN1,WT1,WT1-AS,EIF3M,PRRG4,TCP11L1,LINC00294,CSTF3-DT,CD59,FBXO3,LMO2,NAT10,ELF5,LINC02546,KCNA4,DCDC1,ELP4,PAUPAR,THEM7P,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,CAPRIN1,ABTB2,CAT,MPPED2,IMMP1L,KIAA1549L
 
 xu_08_WAGR/ASD/DD/ID_discovery_cases-caseNIH5
 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,ARL14EP,MPPED2-AS1,DNAJC24,PAX6,RCN1,WT1,WT1-AS,EIF3M,PRRG4,TCP11L1,LINC00294,CSTF3-DT,CD59,FBXO3,LMO2,KIF18A,LINC02546,KCNA4,DCDC1,ELP4,PAUPAR,THEM7P,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,METTL15,MPPED2,IMMP1L,KIAA1549L
 
 xu_08_WAGR/ASD/DD/ID_discovery_cases-caseNIH7
 aCGH (Agilent)
 
 De novo
 
 Likely segregated
 RN7SKP158,MIR8068,OR2BH1P,HNRNPRP2,RN7SL240P,RPL7AP58,LINC01616,FSHB,RPL12P30,CYCSP25,EIF4A2P5,HNRNPA3P9,PIGCP1,RPL29P23,C11orf91,ARL14EP,MPPED2-AS1,DNAJC24,PAX6,RCN1,WT1,WT1-AS,EIF3M,PRRG4,TCP11L1,LINC00294,CSTF3-DT,LINC02546,KCNA4,DCDC1,ELP4,PAUPAR,THEM7P,CCDC73,QSER1,DEPDC7,CSTF3,HIPK3,METTL15,MPPED2,IMMP1L,KIAA1549L
 

Controls

No Control Data Available
No Animal Model Data Available
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