4p15.32CNV Type: Deletion
Largest CNV size: 34654 bp
Statistics Box:
Number of Reports: 7
Number of Reports: 7
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A deletion involving CD38 and BST1 results in a fusion transcript in a patient with autism and asthma.
Deletion
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
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
ceroni_14_ASD_discovery_cases
Younger sister from a International Molecular Genetics Study of Autism Consortium (IMGSAC) multiplex family collection with two affected female siblings
1
Clinical diagnosis of autism; case also met autism classification on ADOS and ADI-R. Case also diagnosed with asthma at age of 18 months.
11 yrs.
Female
82000
1
0
1
digregorio_17_DD/ID_discovery_cases
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
12000
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
60399
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
61704
0
1
1
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
8516
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
34654
4
0
4
yin_16_ASD_discovery_cases
Discovery cohort of ASD cases recruited from the Department of Psychiatry of National Taiwan University Hospital (NTUH), Chang Gung Memorial Hospital (CGMH), Taoyuan, and Taoyuan Mental Hospital (TMH), Taiwan.
335
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R. Cases' autistic behaviors assessed by Social Responsiveness Scale (SRS), and cognitive functions assessed by the Weschler Intelligence Scale for Children-Third Edition (WISC-III) and the Wisconsin Card Sorting Test (WCST).
Mean, 9.39 4.04 yrs.
89.3% Male
352216
0
2
2
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
210390
2
1
3
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
132590
0
1
1
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
2132
0
3
3
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
8516
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
0
0
0
0
yin_16_ASD_discovery_controls
Individuals from the Han Chinese Cell and Genome Bank (HCCGB) in Taiwan
1093
Controls
Mean, 68.07 10.12 yrs.
48.0% Male
352216
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
ceroni_14_ASD_discovery_cases
African-American
Solid phase hybridization
Illumina Infinium 1M
QuantiSNP, iPattern, PennCNV
qPCR
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
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
yin_16_ASD_discovery_cases
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
sanders_11_ASD_discovery_controls
Solid phase hybridization
Illumina 1M v1 or Illumina 1M v3
PennCNV, QuantiSNP, GNOSIS
yin_16_ASD_discovery_controls
Han Chinese
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.1
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
ceroni_14_ASD_discovery_cases-case3388_4
11 yrs.
F
ASD
Clinical diagnosis of autism and global developmental delay at age of 27 months; case also met autism classification on ADOS and ADI-R. Birth/neonatal history: mother had spotting/bleeding during pregnancy with proband; no complications during delivery. Developmental milestones: developmental regression; began using words at age of 9 months; stopping babbling and using words to communicate and was less responsive to parents around 15-18 months; received speech therapy at 23 months for expressive and receptive language delays; did not begin speaking again until age of 3 years; using occasional phrases by age of 3.5 years. Language and communication evaluation: sporadic and unpredictable use of about 100 words at age of 11 years; limited communicative skills that became more pronounced with age. Behavioral/psychiatric evaluation: described as kind, loving, tenacious child; parents concerned that proband was not aware of danger; temper tantrums once a week until age of 10 years; took guanfacine, lisdexamfetamine, and risperidone to manage severe behavioral symptoms, and temper tantrums became less frequent; occasional spontanteous loud utterances; problem with overeating around age of 8 years. Other features: diagnosed with asthma at age of 18 months; inconsistent breathing from age of 16 months, briefly put on oxygen around 18 months of age; symptoms successfully treated with nebulizer and inhalers; no asthma episodes since age of 5 years, and use of inhalers subseqeuently stopped. Growth parameters: overweight at age of 11 years. Family history: less severely affected older sister with autism and regression (does not carry 4p15.32 deletion); father reported to have asthma; apparently healthy mother (4p15.32 deletion is mosaic in mother).
Limited cognitive and adaptive skills that became more pronounced with age. Adaptive behavior composite standard score of 65 using Vineland Adaptive Behavior Scales, Second Edition (VABS-II) at age of 3 years 7 months; VABS-II standard score of 66 at age of 4 years 10 months revealed mild deficit. Nonverbal ratio IQ (NVRIQ) score of 59 and verbal ratio IQ (VRIQ) score of 30 using Mullen Scales of Early Learning at age of 3 years 8 months; NVRIQ score of 55 and VRIQ score of 31 using Mullen Scales of Early Learning at age of 4 years 10 months.
15721979
15804432
82454
GRCh38
Deletion
Yes
digregorio_17_DD/ID_discovery_cases-DECIPHER_301199
N/A
M
Developmental delay/intellectual disability
CNV locus reported as 4p15.33 in original report
17486683
17498663
11981
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case3508_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
17111817
17172216
60400
GRCh38
Deletion
No
krumm_15_ASD_discovery_cases-case13859.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
15778414
15840118
61705
GRCh38
Duplication
Yes
prasad_12_ASD_discovery_cases-case82061L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
16455363
16463878
8516
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11195.p1
8.1
M
Autism
NA
Full-scale IQ, 89; non-verbal IQ, 93; verbal IQ, 86
16951989
16972395
20407
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11387.p1
8.4
M
Autism
NA
Full-scale IQ, 116; non-verbal IQ, 128; verbal IQ 89
17538131
17565732
27602
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12001.p1
5.1
M
Autism
NA
Full-scale IQ, 108; non-verbal IQ, 104; verbal IQ, 111
17647610
17650827
3218
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12574.p1
13
M
ASD
NA
Full-scale IQ, 99; non-verbal IQ, 91; verbal IQ, 111
16338887
16373541
34655
GRCh38
Deletion
No
yin_16_ASD_discovery_cases-case189
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
15637177
15989392
352216
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case190
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
15637177
15989392
352216
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-controlB779589_1007853847
N/A
N/A
Control
No previous psychiatric history
17422200
17632590
210391
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlHABC_900585_900585
N/A
N/A
Control
No previous psychiatric history
16338887
16373541
34655
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900998_900998
N/A
N/A
Control
No previous psychiatric history
16338887
16373541
34655
GRCh38
Deletion
No
kanduri_15_ASD_discovery_controls-control_split1710
N/A
N/A
Control
Control screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
16163209
16295798
132590
Unknown
Duplication
No
krumm_15_ASD_discovery_controls-control11839.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
15705514
15707646
2133
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control12969.s1
N/A
Male
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
15705514
15707646
2133
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_controls-control14384.s1
N/A
Female
Control
Unaffected sibling from the Simons Simplex Collection (SSC)
15705514
15707646
2133
GRCh38
Duplication
Yes
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
ceroni_14_ASD_discovery_cases-case3388_4
qPCR
Maternal
Multiplex
Not segregated
CD38,BST1
Apparent reduction in BST1 and CD38; reduced expression of BST1-CD38 fusion transcript.
digregorio_17_DD/ID_discovery_cases-DECIPHER_301199
Unknown
QDPR
engchuan_15_ASD_discovery_cases-case3508_3
Unknown
LINC02493
krumm_15_ASD_discovery_cases-case13859.p1
Omni2.5-4v1
Maternal
Simplex
Segregated
CD38
prasad_12_ASD_discovery_cases-case82061L
Unknown
Unknown
Unknown
LDB2
sanders_11_ASD_discovery_cases-11195.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11387.p1
Paternal
Simplex (trio)
NA
NACAP5
sanders_11_ASD_discovery_cases-12001.p1
Maternal
Simplex (quad-proband matched)
Segregated
FAM184B
sanders_11_ASD_discovery_cases-12574.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZEB2P1
yin_16_ASD_discovery_cases-case189
Unknown
Unknown
Unknown
HPRT1P1,FGFBP1,FGFBP2,FBXL5,FAM200B,CD38,PROM1,BST1
yin_16_ASD_discovery_cases-case190
Unknown
Unknown
Unknown
HPRT1P1,FGFBP1,FGFBP2,FBXL5,FAM200B,CD38,PROM1,BST1
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB779589_1007853847
Unknown
RPS7P6,CLRN2,NACAP5,QDPR,LAP3,MED28,FAM184B
engchuan_15_ASD_discovery_controls-controlHABC_900585_900585
Unknown
ZEB2P1
engchuan_15_ASD_discovery_controls-controlHABC_900998_900998
Unknown
ZEB2P1
kanduri_15_ASD_discovery_controls-control_split1710
Unknown
TAPT1
krumm_15_ASD_discovery_controls-control11839.s1
Illumina 1MDuo
Paternal
FAM200B,BST1
krumm_15_ASD_discovery_controls-control12969.s1
Illumina 1MDuo
Paternal
FAM200B,BST1
krumm_15_ASD_discovery_controls-control14384.s1
Omni2.5-4v1
Maternal
FAM200B,BST1
No Animal Model Data Available