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Xq24-q25CNV Type: Deletion


Largest CNV size: 446217 bp

Statistics Box:
Number of Reports: 4



Summary Information

Summary statement in development

Additional Locus Information

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USCS Symbol             NCBI Symbol

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References

Major Reports

Title
Author, Year
Report Class
CNV Type
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Duplication

Minor Reports

Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Deletion
Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
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
 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
 212768
 1
 0
 1
 gai_11_ASD_replication_cases
 Replication case samples derived from AGRE sets 1-3
 593
 Idiopathic autism; cases designated as 'spectrum' and 'not quite autism' excluded, as were cases with known genetic syndromes or other non-idiopathic causes
 
 
 239117
 1
 0
 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
 446217
 2
 0
 2
 wolfe_16_ID_discovery_cases
 Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
 202
 All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
 Mean age, 37 yrs. (range, 18-78 yrs.)
 63% Male
 4400049
 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
 510982
 1
 0
 1
 sanders_11_ASD_discovery_controls
 Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
 872
 Controls
 Mean, 10.0 yrs.
 
 435017
 2
 0
 2

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 engchuan_15_ASD_discovery_cases
  Caucasian
 Solid phase hybridization
  Illumina 1M
 
 
 None
 gai_11_ASD_replication_cases
  European
 Solid phase hybridization
  Illumina Infinium II HumanHap550 BeadChip
 
 BeadStudio 3.0
 None
 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
 
 
 wolfe_16_ID_discovery_cases
  74% White British
 aCGH
  Nimblegen 135K
 
 
 qPCR, FISH, QF-PCR

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  engchuan_15_ASD_discovery_controls
  Caucasian
  Solid phase hybridization
  Illumina 1M
 
 
  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
  engchuan_15_ASD_discovery_cases-case3561_3
 N/A
 N/A
 ASD
 Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
 
 121637605
 121850374
  212770
 GRCh38
 Deletion
 No
  gai_11_ASD_replication_cases-AU082004
 
 
 Autism
 
 
 120569085
 120808201
  239117
 Unknown
 Hemizygous Deletion
 No
  sanders_11_ASD_discovery_cases-12175.p1
 5.1
 M
 Autism
 NA
 Full-scale IQ, 71; non-verbal IQ, 73; verbal IQ, 79
 121670227
 121822283
  152057
 GRCh38
 Deletion
 No
  sanders_11_ASD_discovery_cases-12239.p1
 9.1
 M
 Autism
 NA
 Full-scale IQ, 73; non-verbal IQ, 68; verbal IQ, 87
 121376065
 121822283
  446219
 GRCh38
 Deletion
 No
  wolfe_16_ID_discovery_cases-DECIPHER327139
 57 yrs.
 M
 Intellectual disability
 Psychiatric history: challenging behavior. Mini PAS-ADD evaluation: none met. BPI-S evaluation: at least weekly aggressive/destructive behavior and stereotyped behavior. Medical history: shuffling gait, bradykinesia. Dysmorphic features: abnormality of the skull, abnormality of the eyelid, abnormal nasal morphology, abnormalities of the fingers. Growth parameters: height 174 cm, head circumference 61 cm. Ethnicity: black (Caribbean).
 Moderate intellectual disability
 119749285
 124149446
  4400162
 GRCh38
 Duplication
 Yes

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-controlHABC_902574_902574
  N/A
  N/A
  Control
  No previous psychiatric history
 
  121592653
  122103636
  510984
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-11193.s1
  4.8
  F
  Control (matched sibling)
  NA
  NA
  121670227
  121796858
  126632
  GRCh38
  Deletion
  No
  sanders_11_ASD_discovery_controls-12239.s1
  7.4
  M
  Control (matched sibling)
  NA
  NA
  121376065
  121811083
  435019
  GRCh38
  Deletion
  No

Cases

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
 engchuan_15_ASD_discovery_cases-case3561_3
 
 
 Unknown
 
 
 
 
 gai_11_ASD_replication_cases-AU082004
 
 
 Inherited
 
 
 0 genes
 
 sanders_11_ASD_discovery_cases-12175.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Segregated
 
 
 sanders_11_ASD_discovery_cases-12239.p1
 
 
 Maternal
 Simplex (quad-proband matched)
 Not segregated
 
 
 wolfe_16_ID_discovery_cases-DECIPHER327139
 qPCR, FISH, or QF-PCR
 
 Unknown
 Unknown
 Unknown
 SOWAHD,RPL39,SNORA69,RNF113A,NDUFA1,RHOXF1P2,RHOXF2B,LINC01402,SFR1P1,EEF1A1P30,ZBTB33,RNU7-37P,C1GALT1C1,PA2G4P1,CT47B1,CT47A11,CT47A10,CT47A8,CT47A7,CT47A6,CT47A4,CT47A3,CT47A1,GLUD2,HSPA8P1,MIR3672,RPL3P12,MRRFP1,TUBB4AP1,FERP1,MEMO1P4,RNU7-69P,CHCHD2P1,RN7SL190P,XIAP-AS1,RNU6-122P,UPF3B,AKAP14,RHOXF1P3,RHOXF1P1,RHOXF1,RHOXF2,TMEM255A,ATP1B4,CUL4B,MCTS1,CT47A12,CT47A9,CT47A5,TPT1P13,NKAP,RHOXF1-AS1,NKAPP1,LAMP2,CT47A2,GRIA3,XIAP,STAG2,THOC2
 

Controls

Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlHABC_902574_902574
 
 
  Unknown
 
 
  TPT1P13
 
sanders_11_ASD_discovery_controls-11193.s1
 
 
  Both parents
  Simplex (quad)
  NA
 
 
sanders_11_ASD_discovery_controls-12239.s1
 
 
  Maternal
  Simplex (quad)
  NA
 
 

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