8q21.13CNV Type: Deletion-Duplication
Largest CNV size: 514466 bp
Statistics Box:
Number of Reports: 11
Number of Reports: 11
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Structural variation of chromosomes in autism spectrum disorder.
Duplication
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion-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-Duplication
Novel candidate genes and regions for childhood apraxia of speech identified by array comparative genomic hybridization.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Deletion-Duplication
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion-Duplication
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder
Deletion-Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
2454468
0
2
2
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
588000
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
1831021
3
3
6
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
75711
2
0
2
laffin_12_CAS_discovery_cases
Participants recruited and consented for a study of pediatric motor speech disorders
24
Diagnosis of childhood apraxia of speech (CAS) assessed by Madison Speech Assessment Protocol.
Mean, 8.3 3.7 yrs.
66% Male
127880
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
152022
0
1
1
perez_baca_25_ASD/DD/ID_discovery_cases
Individuals with a deletion or duplication affecting the ZFHX4 gene from an initial cohort of 63 individuals (57 probands and 6 affected family members) identified through Clinical Genetics Services worldwide using web-based databases such as GeneMatcher and DECIPHER.
19
Almost all individuals with CNVs affecting ZFHX4 presented with developmental delay/intellectual disability; two individuals also presented with autism spectrum disorder.
Range, 5 mos.-16 yrs.
52.63% Male
7336488
12
1
13
pinto_10_ASD_discovery_cases
Autism Genome Project (AGP) consortium patient cohort from families with at least two ASD individuals
996
ASD (ADI-R and ADOS): strict, broad, or spectrum ASD
195729
1
0
1
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
1831022
1
1
2
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
326916
4
2
6
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
514466
9
1
10
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
1647158
4
0
4
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
poultney_13_ASD_discovery_controls
Controls matched for European ancestry from NIMH and CEPH retained after filtering (original cohort size of 379 controls)
260
Control
N/A
47.49% Male (before filtering)
3375
1
0
1
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)
326916
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.
106156
10
1
11
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
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
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
laffin_12_CAS_discovery_cases
NA
aCGH
Customized 385K NimbleGen array with increased coverage of genes & regions previously associated with CAS
OGT CytoSure Interpret v.3.4.3
None
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
perez_baca_25_ASD/DD/ID_discovery_cases
pinto_10_ASD_discovery_cases
European
Solid phase hybridization
Illumina Infinium 1M SNP microarray
QuantiSNP, iPattern
qPCR, long-range PCR (LR-PCR), MLPA, FISH, aCGH (Agilent 1M), array SNP (Affymetrix 500K)
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
poultney_13_ASD_discovery_controls
European
WES
Agilent SureSelect Human All Exon v.2
XHMM
qPCR
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
chaves_19_ASD/DD/ID_discovery_cases-case19
N/A
M
Developmental delay
Developmental delay, facial dysmorphism, gastroschisis bladder exstrophy, hydronephrosis and abnormal growth. Family history: affected brother does not have 8q21.13 duplication.
81148983
83603450
2454468
GRCh38
Triplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_300375
N/A
M
Developmental delay/intellectual disability
82270618
82858784
588167
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case18116_302
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
82618940
82731597
112658
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case4320_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
79989289
80112772
123484
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case4382_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
83299332
83447118
147787
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case5352_3
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
80172059
80224051
51993
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case8559_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
81016168
82847189
1831022
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case8649_201
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
81936003
83148166
1212164
GRCh38
Duplication
No
gai_11_ASD_replication_cases-AU066004
Autism
83380717
83456427
75711
Unknown
Deletion
No
gai_11_ASD_replication_cases-AU066005
Autism
83380717
83456427
75711
Unknown
Deletion
No
laffin_12_CAS_discovery_cases-case10
10-15 yrs.
NA
CAS
Years of apraxia treatment: unknown. Familial status: unknown. Language impairment: unknown. Motor impairment: unknown.
No available data
82067348
82195228
127881
GRCh38
Deletion
No
marshall_08_ASD_discovery_cases-SK0076-003
NA
F
ASD
NA
NA
82914466
83066488
152023
GRCh38
Duplication
Yes
perez_baca_25_ASD/DD/ID_discovery_cases-case10
8 yrs.
M
Developmental delay/intellectual disability
Birth/neonatal history: intrauterine growth retardation. Developmental milestones: global developmental delay/intellectual disability. Motor and musculoskeletal evaluation: hip dysplasia. Behavioral/psychiatric evaluation: behavioral abnormality. Additional medical history: astigmatism, hypermetropia, pulmonic stenosis, auditory canal stenosis. Dysmorphic features: broad face, prominenr forehead, upslanting palpebral fissures, abnormally prominent ear helix, wide nasal bridge, underdeveloped nasal alae, short philtrum, everted upper lip, thin upper lip. Family history: this deletion was inherited from a similarly affected parent.
Global developmental delay/intellectual disability
75299142
78264578
2965437
GRCh38
Deletion
No
perez_baca_25_ASD/DD/ID_discovery_cases-case13
16 yrs.
F
Developmental delay/intellectual disability
Developmental milestones: moderate global developmental delay/intellectual disability. Motor and musculoskeletal evaluation: digit abnormality, abnormality of the skeletal system. Behavioral/psychiatric evaluation: sleep disturbance. Additional medical history: abnormality of refraction, abnormal heart morphology, recurrent infections. Dysmorphic features: broad face, laterally sparse eyebrows, eyelid ptosis, short philtrum, everted upper lip, micrognathia.
Moderate global developmental delay/intellectual disability
76444811
81696659
5251849
GRCh38
Deletion
No
perez_baca_25_ASD/DD/ID_discovery_cases-case14
M
ASD
Motor and musculoskeletal evaluation: abnormal muscle tone, camptodactyly, abnormality of toe, short neck. Behavioral/psychiatric evaluation: sleep disturbance, auto-aggressive behavior, autism. Additional medical history: feeding difficulties, auditory canal stenosis, myopia, atrial septal defect, capillary malformation, inverted nipples, hearing loss. Dysmorphic features: broad face, prominent forehead, laterally sparse eyebrows, short and upslanting palpebral fissures, eyelid ptosis, periorbital fullness, epicanthal folds, low-set ears, abnormally prominent ear helix, flared nostrils, enlarged naris, underdeveloped nasal alae, short philtrum, abnormality of upper lip vermillion, cleft lip and/or palate, micrognathia, abnormality of the palmar creases, unilateral microtia, hypoplastic antihelix. Growth parameters: growth delay, disproportionate short-limb short stature.
76651648
76705090
53443
GRCh38
Deletion
No
perez_baca_25_ASD/DD/ID_discovery_cases-case15
21 mos.
F
Developmental delay/intellectual disability
Developmental milestones: mild global developmental delay/intellectual disability. Motor and musculoskeletal evaluation: digit abnormality, muscular hypotonia. Brain imaging: dilated ventricles. Dysmorphic features: broad face, prominent forehead, biparietal narrowing, laterally sparse eyebrows, eyelid ptosis, periorbital fullness, epicanthal folds, low-set ears, abnormally prominent ear helix, wide nasal bridge, flared nostrils, enlarged naris, underdeveloped nasal alae, abnormality of upper lip vermillion (everted upper lip). Family history: this duplication was inherited from a similarly affected parent.
Mild global developmental delay/intellectual disability
76694582
76724599
30018
GRCh38
Duplication
No
perez_baca_25_ASD/DD/ID_discovery_cases-case16
3 yrs.
F
Developmental delay/intellectual disability
Developmental milestones: global developmental delay/intellectual disability. Motor and musculoskeletal evaluation: abnormal muscle tone, metatarsus adductus, short neck, sacral dimple. Behavioral/psychiatric evaluation: aggressive behavior. Additional medical history: nasolacrimal duct obstruction. Dysmorphic features: broad face, prominent forehead, eyelid ptosis, periorbital fullness, epicanthal folds, low-set and posteriorly rotated ears, wide nasal bridge, downturned corners of the mouth, midface hypoplasia, cupped ear.
Global developmental delay/intellectual disability
76705820
76710923
5104
GRCh38
Deletion
No
perez_baca_25_ASD/DD/ID_discovery_cases-case17
1 yr. 2 mos.
F
Developmental delay
Developmental milestones: mild motor delay. Additional medical history: abnormal heart morphology. Dysmorphic features: posteriorly rotated ears, abnormally prominent ear helix, narrow nasal tip, cleft lip and/or palate, abnormality of the palmar creases.
76784053
76856343
72291
GRCh38
Deletion
No
perez_baca_25_ASD/DD/ID_discovery_cases-case18
8 yrs.
M
ASD, developmental delay/intellectual disability, and epilepsy
Developmental milestones: mild global developmental delay/intellectual disability with motor delay. Motor and musculoskeletal evaluation: abnormal muscle tone, imbalance, camptodactyly, clinodactyly, broad toes. Behavioral/psychiatric evaluation: autism. Epilepsy/seizures: epilepsy, seizures. Brain imaging: widened subarachnoid space, cerebral cystic malformation, periventricular cysts, subependymal cyst. Additional medical history: hypermetropia, amblyopia, cerebral visual impairment), recurrent infections, hydronephrosis, splenomegaly. Dysmorphic features: broad face, prominent forehead, laterally sparse eyebrows, eyelid ptosis, epicanthal folds, low-set and posteriorly rotated ears, abnormally prominent ear helix, wide nasal bridge, narrow nasal tip, flared nostrils, enlarged naris, underdeveloped nasal alae, smooth philtrum, abnormality of upper lip vermillion (thin upper lip), delayed eruption of permanent teeth.
Mild global developmental delay/intellectual disability
76807765
76896288
88524
GRCh38
Deletion
No
perez_baca_25_ASD/DD/ID_discovery_cases-case19
5 yrs.
M
Developmental delay/intellectual disability
Developmental milestones: global developmental delay/intellectual disability with speech delay. Motor and musculoskeletal evaluation: muscular hypotonia, camptodactyly, joint hypermobility, short neck, flat feet. Behavioral/psychiatric evaluation: behavioral abnormality. Brain imaging: aplasia/hypoplasia of the corpus callosum. Additional medical history: feeding difficulties, recurrent infections, capillary malformation, hearing loss. Dysmorphic features: prominent forehead, laterally sparse eyebrows, eyelid ptosis, periorbital fullness, epicanthal folds, low-set and posteriorly rotated ears, abnormally prominent ear helix, underdeveloped nasal alae, abnormality of upper lip vermillion (thin upper lip), round face, hypoplastic superior helix.
Global developmental delay/intellectual disability
76813792
76849618
35827
GRCh38
Deletion
No
perez_baca_25_ASD/DD/ID_discovery_cases-case20
4 yrs.
F
Developmental delay/intellectual disability
Developmental milestones: moderate global developmental delay/intellectual disability. Motor and musculoskeletal evaluation: muscular hypotonia, digit abnormality, hyperkyphosis. Behavioral/psychiatric evaluation: behavioral abnormality. Brain imaging. morphological abnormality of the central nervous system. Additional medical history: additional nervous system abnormalities, strabismus, abnormality of refraction, cryptorchidism, constipation. Dysmorphic features: broad face, biparietal narrowing, upslanting palpebral fissures, eyelid ptosis, epicanthal folds, low-set ears, abnormally prominent ear helix, wide nasal bridge, narrow nasal tip, flared nostrils, enlarged naris, underdeveloped nasal alae, abnormality of upper lip vermillion, small forehead, arched eyebrows, abnormal dentition. Growth parameters: short stature.
Moderate global developmental delay/intellectual disability
76839279
82603981
5764703
GRCh38
Deletion
No
perez_baca_25_ASD/DD/ID_discovery_cases-case21
13 yrs.
M
Developmental delay/intellectual disability
Developmental milestones: global developmental delay/intellectual disability. Motor and musculoskeletal evaluation: abnormal muscle tone, abnormality of the skeletal system, abnormality of movement. Behavioral/psychiatric evaluation: sleep disturbance. Additional medical history: abnormality of the genital system, paresthesia, anophthalmia. Dysmorphic features: broad face, prominent forehead, biparietal narrowing, laterally sparse eyebrows, short palpebral fissures, low-set ears, abnormally prominent ear helix, wide nasal bridge, flared nostrils, underdeveloped nasal alae, short philtrum, cleft lip and/or palate.
Global developmental delay/intellectual disability
76851317
76853119
1803
GRCh38
Deletion
No
perez_baca_25_ASD/DD/ID_discovery_cases-case6
8 yrs.
M
Developmental delay/intellectual disability
Developmental milestones: mild global developmental delay/intellectual disability. Motor and musculoskeletal evaluation: muscular hypotonia, abnormality of toe, shortening of the Achilles tendon, flat feet. Behavioral abnormality: overfriendliness. Additional medical history: astigmatism, hypermetropia, cryptorchidism, hypogenitalism, recurrent infections, constipation. Dysmorphic features: broad face, prominent forehead, biparietal narrowing, upslanting palpebral fissures, eyelid ptosis, periorbital fullness, epicanthal folds, low-set and posteriorly rotated ears, abnormally prominent ear helix, wide nasal bridge, narrow nasal tip, flared nostrils, enlarged naris, underdeveloped nasal alae, smooth philtrum. Growth parameters: lower limb asymmetry.
Mild global developmental delay/intellectual disability
74761631
78235048
3473418
GRCh38
Deletion
No
perez_baca_25_ASD/DD/ID_discovery_cases-case8
5 mos.
M
Developmental delay/intellectual disability
Birth/neonatal history: fetal macrosomia. Developmental milestones: global developmental delay/intellectual disability. Motor and musculoskeletal evaluation: muscular hypotonia, large anterior fontanelle. Brain imaging: aplasia/hypoplasia of the corpus callosum, abnormal gyration, widened subarachnoid space, dilated ventricles. Additional medical history: abnormality of refraction, hypogenitalism, abnormality of the scrotum, feeding difficulties, recurrent infections, eczema, hydroneprhosis. Dysmorphic features, broad face, prominent forehead, short palpebral fissures, eyelid ptosis, low-set and posteriorly rotated ears, abnormally prominent ear helix, wide nasal bridge, flared nostrils, underdeveloped nasal alae, abnormality of upper lip vermillion (everted upper lip). Family history: this deletion arose de novo in his 32-year-old mother, who presented with mild global developmental delay/intellectual disability, broad face, short and upslanting palpebral fissures, eyelid ptosis, low-set and posteriorly rotated ears, flared nostrils, underdeveloped nasal alae, thin upper lip vermillion, strabismus, and abnormality of refraction (amblyopia).
Global developmental delay/intellectual disability
74953019
77754408
2801390
GRCh38
Deletion
No
perez_baca_25_ASD/DD/ID_discovery_cases-case9
2 yrs.
F
Developmental delay/intellectual disability
Developmental milestones: mild global developmental delay/intellectual disability. Behavioral/psychiatric evaluation: sleep disturbance. Additional medical history: myopia, feeding difficutlies, capillary malformation, supernumerary nipple. Dysmorphic features: broad face, prominent forehead, biparietal narrowing, laterally sparse eyebrows, hypertelorism, short palpebral fissures, periorbital fullness, epicanthal folds, low-set ears, abnormally prominent ear helix, wide nasal bridge, flared nostrils, enlarged naris, underdeveloped nasal alae, thin upper lip, downturned corners of the mouth. Growth parameters: growth abnormality.
Mild global developmental delay/intellectual disability
75157236
82493723
7336488
GRCh38
Deletion
No
pinto_10_ASD_discovery_cases-case5426_3
NA
M
ASD
NA
NA
83910751
84106479
195729
Unknown
Deletion
Yes
pinto_14_ASD_discovery_cases2-case18116_302
N/A
M
ASD
Autism (based on ADI-R and ADOS), language delay (first words 48 mo, first phrases 66 mo); odd gait (bouncing walk), significant aggression toward others, slight self-injury, EEG borderline abnormal, no reports of seizures (AGRE ID: AU2071302). Family history: mother had articulation problems; no other parent information.
PPVT 72; Stanford Binet: VIQ 52, NVIQ 86, FSIQ 67
82618940
82731597
112658
GRCh38
Duplication
Yes
pinto_14_ASD_discovery_cases2-case8559_201
34 yrs.
F
ASD
Autism on ADI-R and ADOS, comorbid OCD; history of ABO incompatibility with blood transfusion at birth; overweight at age 34, normal height and head circumference, no epilepsy. Family history: mother with dyslexia and history of drug abuse, father unaffected.
VIQ 91, PIQ 76, FSIQ 83 at age 23
81016168
82847189
1831022
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case100579L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
83907372
83933774
26403
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case105533L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
83907372
83933774
26403
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case115533
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
83924562
83956960
32399
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-case52335
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
83897481
83933774
36294
Unknown
Deletion
No
prasad_12_ASD_discovery_cases-case84319
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
82099806
82426721
326916
Unknown
Duplication
No
prasad_12_ASD_discovery_cases-caseL948
NA
F
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. Novel CNV
82910733
82920455
9723
Unknown
Deletion
No
sanders_11_ASD_discovery_cases-11146.p1
10.6
M
Autism
NA
Full-scale IQ, 85; non-verbal IQ, 87; verbal IQ, 80
82359445
82381637
22193
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11148.p1
5.7
M
Autism
NA
Full-scale IQ, 86; non-verbal IQ, 82; verbal IQ, 99
82359445
82381637
22193
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11556.p1
9.7
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 102; verbal IQ, 108
82835961
82859057
23097
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11859.p1
4.5
M
Autism
NA
Full-scale IQ, 54; non-verbal IQ, 49; verbal IQ, 47
82849640
82859057
9418
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12260.p1
5.3
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 103; verbal IQ, 109
82866540
82876253
9714
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12339.p1
15.5
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 63; verbal IQ, 33
82067388
82581854
514467
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12555.p1
16.9
M
Autism
NA
Full-scale IQ, 119; non-verbal IQ, 113; verbal IQ, 126
81718990
81734234
15245
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12575.p1
17
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 98; verbal IQ, 109
82359445
82382546
23102
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13073.p1
4.8
M
Autism
NA
Full-scale IQ, 43; non-verbal IQ, 60; verbal IQ, 25
82359445
82382546
23102
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13159.p1
11.3
M
Autism
NA
Full-scale IQ, 79; non-verbal IQ, 95; verbal IQ, 55
82359445
82382546
23102
GRCh38
Deletion
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-control110036014728_
N/A
N/A
Control
No previous psychiatric history
82403187
82577509
174323
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900403_900403
N/A
N/A
Control
No previous psychiatric history
81739006
83386164
1647159
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900801_900801
N/A
N/A
Control
No previous psychiatric history
83315437
83375738
60302
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_902442_902442
N/A
N/A
Control
No previous psychiatric history
82346112
82403313
57202
GRCh38
Deletion
No
poultney_13_ASD_discovery_controls-control05C39335A
N/A
F
Control
NIMH Control (NIMH ID 25611)
81713916
81717290
3375
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11043.s1
11.5
M
Control (matched sibling)
NA
NA
82359445
82380982
21538
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11146.s1
9.7
M
Control (matched sibling)
NA
NA
82359445
82381637
22193
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11148.s1
12.2
F
Control (matched sibling)
NA
NA
82359445
82381637
22193
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11224.s1
7.1
F
Control (matched sibling)
NA
NA
82359445
82381637
22193
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11284.s1
7.1
F
Control (matched sibling)
NA
NA
82359445
82381637
22193
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11549.s1
21.9
F
Control (matched sibling)
NA
NA
82866540
82876253
9714
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11863.s1
8
F
Control (matched sibling)
NA
NA
83172197
83212641
40445
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12517.s1
11.7
M
Control (matched sibling)
NA
NA
82866540
82876253
9714
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12575.s1
18.6
M
Control (matched sibling)
NA
NA
82359445
82382546
23102
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12656.s1
16.3
M
Control (matched sibling)
NA
NA
82901713
83007869
106157
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13073.s1
6.6
M
Control (matched sibling)
NA
NA
82359445
82382546
23102
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chaves_19_ASD/DD/ID_discovery_cases-case19
Unknown
UBE2HP1,FABP4,FTH1P11,NIPA2P4,RPS26P34,SLC10A5P1,SLC10A5,HNRNPA1P36,HNRNPA1P4,LINC01419,FABP5,PMP2,FABP9,IMPA1P1,ZFAND1,CHMP4C,SNX16,LINC02839,FABP12,IMPA1,LINC02235
digregorio_17_DD/ID_discovery_cases-DECIPHER_300375
Maternal
HNRNPA1P4
engchuan_15_ASD_discovery_cases-case18116_302
Unknown
engchuan_15_ASD_discovery_cases-case4320_1
Unknown
MRPS28,TPD52
engchuan_15_ASD_discovery_cases-case4382_1
Unknown
LINC01419
engchuan_15_ASD_discovery_cases-case5352_3
Unknown
RN7SL41P,TPD52
engchuan_15_ASD_discovery_cases-case8559_201
Unknown
UBE2HP1,FABP4,FTH1P11,NIPA2P4,RPS26P34,SLC10A5P1,SLC10A5,HNRNPA1P36,HNRNPA1P4,FABP5,PMP2,FABP9,IMPA1P1,IMPA1,ZFAND1,CHMP4C,SNX16,PAG1,FABP12,LINC02235
engchuan_15_ASD_discovery_cases-case8649_201
Unknown
HNRNPA1P4
gai_11_ASD_replication_cases-AU066004
Inherited
0 genes
gai_11_ASD_replication_cases-AU066005
Inherited
0 genes
laffin_12_CAS_discovery_cases-case10
Unknown
Unknown
Unknown
marshall_08_ASD_discovery_cases-SK0076-003
qPCR, qmPCR
Unknown
NA
NA
perez_baca_25_ASD/DD/ID_discovery_cases-case10
Paternal
Paternal
Segregated
ZFHX4,MRPL9P1,HNF4G,ZFHX4-AS1,MIR3149,HIGD1AP6,HIGD1AP18,CASC9,LINC01111,PEX2,LINC01109,PKMP4,RNU2-54P
perez_baca_25_ASD/DD/ID_discovery_cases-case13
De novo
FABP5,FABP4,ZC2HC1A,MRPS28,PAG1,ZFHX4,ZBTB10,MRPL9P1,CKS1BP7,IMPA1,IL7,FTH1P11,SLC10A5,RPSAP47,ZNF704,UBE2HP1,FABP9,FABP12,IMPA1P1,SLC25A51P3,RPL3P9,RNU7-85P,ZFHX4-AS1,RPS26P34,NIPA2P4,MIR3149,THAP12P7,MIR5708,SLC10A5P1,HIGD1AP18,HMGB1P41,LINC01607,PKIA-AS1,LINC01111,PKIA,PMP2,PEX2,RN7SL107P,RN7SL308P,TPD52,RNU2-71P,RNU11-6P,RNU7-174P,RN7SL41P,RNU6-1220P,RNU6-1213P,LINC02605,STMN2,HEY1
perez_baca_25_ASD/DD/ID_discovery_cases-case14
De novo
ZFHX4,ZFHX4-AS1
perez_baca_25_ASD/DD/ID_discovery_cases-case15
Maternal
Maternal
Segregated
ZFHX4
perez_baca_25_ASD/DD/ID_discovery_cases-case16
De novo
ZFHX4
perez_baca_25_ASD/DD/ID_discovery_cases-case17
Unknown
ZFHX4
perez_baca_25_ASD/DD/ID_discovery_cases-case18
De novo
ZFHX4
perez_baca_25_ASD/DD/ID_discovery_cases-case19
De novo
ZFHX4
perez_baca_25_ASD/DD/ID_discovery_cases-case20
De novo
FABP5,FABP4,ZC2HC1A,MRPS28,PAG1,ZFHX4,ZFAND1,ZBTB10,SNX16,CHMP4C,CKS1BP7,IMPA1,IL7,FTH1P11,SLC10A5,RPSAP47,HNRNPA1P4,ZNF704,UBE2HP1,FABP9,FABP12,IMPA1P1,SLC25A51P3,RPL3P9,HNRNPA1P36,RNU7-85P,RPS26P34,NIPA2P4,MIR3149,THAP12P7,MIR5708,SLC10A5P1,HIGD1AP18,HMGB1P41,LINC01607,PKIA-AS1,PKIA,PMP2,PEX2,LINC02839,RN7SL107P,RN7SL308P,TPD52,RNU2-71P,RNU11-6P,RNU7-174P,RN7SL41P,RNU6-1220P,RNU6-1213P,LINC02235,LINC02605,STMN2,HEY1
perez_baca_25_ASD/DD/ID_discovery_cases-case21
De novo
ZFHX4
perez_baca_25_ASD/DD/ID_discovery_cases-case6
De novo
PI15,ZFHX4,CRISPLD1,MRPL9P1,HNF4G,MIR2052HG,ZFHX4-AS1,MIR3149,HIGD1AP6,HIGD1AP18,CASC9,LINC01111,PEX2,LINC01109,PKMP4,RNU2-54P,LINC02886
perez_baca_25_ASD/DD/ID_discovery_cases-case8
Maternal
Maternal
Segregated
ZFHX4,CRISPLD1,MRPL9P1,HNF4G,ZFHX4-AS1,MIR3149,HIGD1AP6,HIGD1AP18,CASC9,LINC01111,PEX2,LINC01109,PKMP4,RNU2-54P,LINC02886
perez_baca_25_ASD/DD/ID_discovery_cases-case9
De novo
FABP5,FABP4,ZC2HC1A,MRPS28,PAG1,ZFHX4,ZFAND1,ZBTB10,SNX16,CHMP4C,MRPL9P1,CKS1BP7,IMPA1,IL7,HNF4G,FTH1P11,SLC10A5,RPSAP47,HNRNPA1P4,ZNF704,UBE2HP1,FABP9,FABP12,IMPA1P1,SLC25A51P3,RPL3P9,HNRNPA1P36,RNU7-85P,ZFHX4-AS1,RPS26P34,NIPA2P4,MIR3149,THAP12P7,MIR5708,SLC10A5P1,HIGD1AP6,HIGD1AP18,HMGB1P41,CASC9,LINC01607,PKIA-AS1,LINC01111,PKIA,PMP2,PEX2,LINC01109,LINC02839,RN7SL107P,RN7SL308P,TPD52,RNU2-71P,RNU11-6P,RNU7-174P,PKMP4,RN7SL41P,RNU2-54P,RNU6-1220P,RNU6-1213P,LINC02235,LINC02605,LINC02886,STMN2,HEY1
pinto_10_ASD_discovery_cases-case5426_3
Agilent1M
paternal
NA
NA
0 genes
pinto_14_ASD_discovery_cases2-case18116_302
qPCR
Unknown (not maternal, father no DNA)
Multiplex
Not segregated (no CNV in affected sibling)
pinto_14_ASD_discovery_cases2-case8559_201
qPCR
Paternal
Simplex
Unknown (not tested)
UBE2HP1,FABP4,FTH1P11,NIPA2P4,RPS26P34,SLC10A5P1,SLC10A5,HNRNPA1P36,HNRNPA1P4,FABP5,PMP2,FABP9,IMPA1P1,IMPA1,ZFAND1,CHMP4C,SNX16,PAG1,FABP12,LINC02235
prasad_12_ASD_discovery_cases-case100579L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case105533L
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case115533
Unknown
Unknown
Unknown
0 genes
prasad_12_ASD_discovery_cases-case52335
Unknown
Multiplex
Unknown
0 genes
prasad_12_ASD_discovery_cases-case84319
Unknown
Unknown
Unknown
PAG1,FABP5
prasad_12_ASD_discovery_cases-caseL948
Unknown
Unknown
Unknown
SNX16
sanders_11_ASD_discovery_cases-11146.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11148.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11556.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-11859.p1
Maternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12260.p1
Paternal
Simplex (trio)
NA
sanders_11_ASD_discovery_cases-12339.p1
Maternal
Simplex (quad-proband matched)
Not segregated
HNRNPA1P4
sanders_11_ASD_discovery_cases-12555.p1
Paternal
Simplex (quad-proband matched)
Not segregated
ZFAND1,CHMP4C
sanders_11_ASD_discovery_cases-12575.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13073.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13159.p1
Paternal
Simplex (quad-proband matched)
Not segregated
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036014728_
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_900403_900403
Unknown
HNRNPA1P36,HNRNPA1P4,CHMP4C,SNX16,LINC02235
engchuan_15_ASD_discovery_controls-controlHABC_900801_900801
Unknown
engchuan_15_ASD_discovery_controls-controlHABC_902442_902442
Unknown
poultney_13_ASD_discovery_controls-control05C39335A
qPCR
Unknown
ZFAND1
sanders_11_ASD_discovery_controls-11043.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11146.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11148.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11224.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11284.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11549.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-11863.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12517.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12575.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12656.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13073.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available