Xq24-q25CNV Type: Deletion
Largest CNV size: 446217 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Summary statement in development
Additional Locus Information
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
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
2849095
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
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
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
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
han_22_ASD/DD/ID_discovery_cases-case16D0761
1 mo. 28 days
F
Developmental delay/Intellectual disability
120966431
123815525
2849095
GRCh38
Duplication
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
han_22_ASD/DD/ID_discovery_cases-case16D0761
Unknown
THOC2,HSPA8P1,GRIA3,GLUD2,MRRFP1,TUBB4AP1,FERP1,TPT1P13,CT47A3,CT47A1,CT47A2,CT47A4,CBLL1P1,RNU7-69P,RPL3P12,MEMO1P4,MIR3672,CHCHD2P1,UBE2V1P16,RN7SL190P,H3P47
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
No Animal Model Data Available