geno logo
     HELP     Sign In

Quick Links

TOOLS

Xp11.21CNV Type: Deletion-Duplication


Largest CNV size: 36717 bp

Statistics Box:
Number of Reports: 6


Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Deletion-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Diagnostic yield of array comparative genomic hybridization in adults with autism spectrum disorders.
Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Duplication
NA
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 733000
 0
 1
 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
 234260
 0
 2
 2
 lionel_13_ASD/SCZ/EP_discovery_cases
 Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
 5384
 ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
 NA
 NA
 50660
 1
 0
 1
 sajan_13_ACC/CBLH/PMG_discovery_cases
 Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
 487
 Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
 N/A
 N/A
 487959
 0
 1
 1
 sanders_11_ASD_discovery_cases
 Autistic probands from the Simons Simplex Collection (SSC). 872 probands in quartet families, 272 probands in trios.
 1124
 ASD diagnosis: 89.5% autism; 8.5% PDD-NOS, 2% Asperger syndrome. Mean full-scale IQ 85.1 1.5 (mean verbal IQ, 81.9 1.7; mean non-verbal IQ, 88.4 1.4)
 Mean, 9.1 yrs.
 86.1% Male
 36717
 4
 3
 7
 stobbe_13_ASD_discovery_cases
 Adult ASD cases referred for genetic evaluation of autism from July 2009 through April 2012
 36
 Diagnosis of ASD confirmed in 34 of 36 patients; diagnosis of ASD based on DSM-IV criteria and confirmed by chart review by neurologist specializing in autism.
 Range, 18-45 yrs. (mean 25.3 yrs.)
 77.78% Male
 150000
 0
 1
 1

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
 172757
 0
 3
 3
 nord_11_ASD_discovery_controls
 Samples from 367 total control individuals (319 European American, 48 African American) used to test for differences in rare CNV prevalence compared with autism cases
 123
 Controls (no history of psychiatric symptoms by self-report)
 30 yrs.
 
 22162
 0
 1
 1
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 132141
 10
 2
 12

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 None
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 lionel_13_ASD/SCZ/EP_discovery_cases
  NA
 aCGH, array SNP
  Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
 
 Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
 None
 sajan_13_ACC/CBLH/PMG_discovery_cases
  81.31% Caucasian
 Solid phase hybridization
  Illumina InfiniumII HumanHap610
 PennCNV
 
 qPCR
 sanders_11_ASD_discovery_cases
  White non-Hispanic, 74.5%; mixed, 9.3%, Asian, 4.3%, White Hispanic, 4.0%, African-American, 3.8%; other, 4.2&
 Solid phase hybridization
  Illumina 1M v1, Illumina 1M v3
 PennCNV, QuantiSNP, GNOSIS
 
 
 stobbe_13_ASD_discovery_cases
  N/A
 aCGH
  NimbleGen CGX-3v1.0
 ADM-1
 NimbleScan 2.5, DNA Analytics 4.0
 None

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  None
  nord_11_ASD_discovery_controls
 
  aCGH
  NimbleGen HD2
  Sliding-window algorithm, ~10 kb minumum size threshold
 
  None
  sanders_11_ASD_discovery_controls
 
  Solid phase hybridization
  Illumina 1M v1 or Illumina 1M v3
  PennCNV, QuantiSNP, GNOSIS
 
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  digregorio_17_DD/ID_discovery_cases-DECIPHER_300320
  NA NA
 N/A
 M
 Developmental delay/intellectual disability
 CNV locus reported as Xp11.2-q11.1 in original report
 
 57292466
 58025331
  732866
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case14035_630
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 55556950
 55610937
  53988
 GRCh38
 Duplication
 No
  engchuan_15_ASD_discovery_cases-case8627_201
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 55277081
 55511341
  234261
 GRCh38
 Duplication
 No
  lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 13 yrs.
 F
 ASD
 Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
 Completed secondary school degree with exception of mathematics
 56026606
 56077265
  50660
 GRCh38
 Deletion
 No
  sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-354
 N/A
 N/A
 ACC-CBLH
 Diagnosis of agenesis of the corpus callosum (ACC) and cerebellar hypoplasia (CBLH). ASD: N/A. Seizures: N/A.
 Developmental delay: yes. Intellectual disability: N/A.
 55780854
 56268812
  487959
 GRCh38
 Duplication
 Yes
  sanders_11_ASD_discovery_cases-11117.p1
 9.3
 F
 Autism
 NA
 Full-scale IQ, 121; non-verbal IQ, 119; verbal IQ, 119
 56442567
 56479284
  36718
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-11205.p1
 7.9
 M
 Autism
 NA
 Full-scale IQ, 63; non-verbal IQ, 70; verbal IQ, 61
 56057237
 56081588
  24352
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12335.p1
 6.3
 F
 Autism
 NA
 Full-scale IQ, 55; non-verbal IQ, 47; verbal IQ, 66
 56063935
 56075591
  11657
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12456.p1
 14.3
 F
 Autism
 NA
 Full-scale IQ, 40; non-verbal IQ, 45; verbal IQ, 30
 56442567
 56479284
  36718
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12484.p1
 9.4
 M
 Autism
 NA
 Full-scale IQ, 98; non-verbal IQ, 107; verbal IQ, 83
 56442567
 56479284
  36718
 GRCh38
 Duplication
 No
  sanders_11_ASD_discovery_cases-12510.p1
 7.3
 M
 Autism
 NA
 Full-scale IQ, 52; non-verbal IQ, 59; verbal IQ, 47
 54865955
 54885829
  19875
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12951.p1
 15.3
 M
 Autism
 NA
 Full-scale IQ, 57; non-verbal IQ, 64; verbal IQ, 44
 56442567
 56448622
  6056
 GRCh38
 Deletion
 No
  stobbe_13_ASD_discovery_cases-case40
 19 yrs.
 M
 Autism, ID, and epilepsy
 Family history: 1 brother with ASD, 1 brother with ASD and epilepsy; mother with bipolar disorder; father with depression. Karyotype: normal. Fragile X testing: normal.
 Intellectual disability; IQ 42
 56273838
 56423104
  149267
 GRCh38
 Duplication
 No

Controls

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  engchuan_15_ASD_discovery_controls-controlB549186_1007840957
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56274720
  56447477
  172758
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900328_900328
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56442567
  56479284
  36718
  GRCh38
  Duplication
  No
  engchuan_15_ASD_discovery_controls-controlHABC_900330_900330
  N/A
  N/A
  Control
  No previous psychiatric history
 
  56274720
  56430596
  155877
  GRCh38
  Duplication
  No
  nord_11_ASD_discovery_controls-04C27651
 
 
  Control
 
 
  56256139
  56278300
  22162
  Unknown
  Duplication
 
  sanders_11_ASD_discovery_controls-11117.s1
  7.1
  F
  Control (matched sibling)
  NA
  NA
  56442567
  56479284
  36718
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-11400.s1
  10.8
  F
  Control (matched sibling)
  NA
  NA
  55598190
  55616557
  18368
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11463.s1
  12.7
  F
  Control (matched sibling)
  NA
  NA
  56442567
  56447701
  5135
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11600.s1
  19.2
  M
  Control (matched sibling)
  NA
  NA
  56068283
  56200424
  132142
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11941.s1
  8.7
  F
  Control (matched sibling)
  NA
  NA
  55060216
  55097427
  37212
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12063.s1
  11.8
  F
  Control (matched sibling)
  NA
  NA
  56442567
  56448622
  6056
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12117.s1
  12
  F
  Control (matched sibling)
  NA
  NA
  55060216
  55097427
  37212
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12335.s1
  4.7
  F
  Control (matched sibling)
  NA
  NA
  56063935
  56075591
  11657
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12510.s1
  4.1
  M
  Control (matched sibling)
  NA
  NA
  54865955
  54885829
  19875
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12541.s1
  8.3
  M
  Control (matched sibling)
  NA
  NA
  56057237
  56075591
  18355
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12671.s1
  17.4
  F
  Control (matched sibling)
  NA
  NA
  56442567
  56479284
  36718
  GRCh38
  Duplication
  No
  sanders_11_ASD_discovery_controls-12951.s1
  12.1
  M
  Control (matched sibling)
  NA
  NA
  56442567
  56448622
  6056
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 digregorio_17_DD/ID_discovery_cases-DECIPHER_300320
 
 
 Unknown
 
 
 ZXDB,NLRP2B,ZXDA,MYCLP2,KRT8P17,MTHFD1P1,FAAH2
 
 engchuan_15_ASD_discovery_cases-case14035_630
 
 
 Unknown
 
 
 
 
 engchuan_15_ASD_discovery_cases-case8627_201
 
 
 Unknown
 
 
 MIR4536-1,MIR4536-2,MAGEH1,USP51
 
 lionel_13_ASD/SCZ/EP_discovery_cases-proband1
 
 
 Unknown
 Simplex
 Unknown
 
 
 sajan_13_ACC/CBLH/PMG_discovery_cases-caseLR05-354
 qPCR
 
 Maternal
 Unknown
 Unknown
 RPL23AP83,KLF8
 
 sanders_11_ASD_discovery_cases-11117.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-11205.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12335.p1
 
 
 Both parents
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12456.p1
 
 
 Paternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12484.p1
 
 
 Maternal
 Simplex (quad-proband unmatched)
 Unknown
 
 
 sanders_11_ASD_discovery_cases-12510.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 sanders_11_ASD_discovery_cases-12951.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 stobbe_13_ASD_discovery_cases-case40
 
 Possibly maternal and/or paternal
 Unknown
 Multi-generational
 Unknown
 KLF8
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB549186_1007840957
 
 
  Unknown
 
 
  KLF8
 
engchuan_15_ASD_discovery_controls-controlHABC_900328_900328
 
 
  Unknown
 
 
 
 
engchuan_15_ASD_discovery_controls-controlHABC_900330_900330
 
 
  Unknown
 
 
  KLF8
 
nord_11_ASD_discovery_controls-04C27651
 
 
 
 
 
  KLF8
 
sanders_11_ASD_discovery_controls-11117.s1
 
 
  Paternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11400.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11463.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11600.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-11941.s1
 
 
  Unknown
  Simplex (quad)
  NA
  PAGE2B,PAGE2
 
sanders_11_ASD_discovery_controls-12063.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12117.s1
 
 
  Paternal
  Simplex (quad)
  NA
  PAGE2B,PAGE2
 
sanders_11_ASD_discovery_controls-12335.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12510.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12541.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12671.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12951.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

No Animal Model Data Available
HELP
Copyright © 2017 MindSpec, Inc.