18q12.2CNV Type: Deletion-Duplication
Largest CNV size: 816914 bp
Statistics Box:
Number of Reports: 19
Number of Reports: 19
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Functional impact of global rare copy number variation in autism spectrum disorders.
Deletion
Transmission disequilibrium of small CNVs in simplex autism.
Deletion-Duplication
Excess of rare, inherited truncating mutations in autism.
Deletion-Duplication
Familial 18q12.2 deletion supports the role of RNA-binding protein CELF4 in autism spectrum disorders.
Deletion
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use.
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 de novo and transmitted copy-number variation in autistic spectrum disorders.
Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Duplication
Haploinsufficiency of CELF4 at 18q12.2 is associated with developmental and behavioral disorders, seizures, eye manifestations, and obesity.
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-Duplication
Genome-wide analysis of copy number variations identifies PARK2 as a candidate gene for autism spectrum disorder.
Duplication
Chromosomal microarray analysis in clinical evaluation of neurodevelopmental disorders-reporting a novel deletion of SETDB1 and illustration of cou...
Duplication
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
barone_17_ASD/ID_discovery_cases
A 7-year-old girl and her more mildly affected mother, both of whom were identified with 18q12.2 deletions involving the CELF4 gene
2
The 7-year-old female proband was diagnosed with autism (confirmed by ADOS and ADI-R) and moderate intellectual disability (based on evaluation by Griffith Mental Development Scales); her 30-year-old mother was diagnosed with mild intellectual disability (based on WAIS-IV evaluation) and presented with autistic behavior.
Range, 7-30 yrs.
Female
275000
2
0
2
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
146
0
1
1
chehbani_22_ASD_discovery_cases
Patients recruited between January and April 2017 at the Child and Adolescent Psychiatry Clinic of the Department of Psychiatry, Fattouma Bourguiba University Hospital (Monastir, Tunisia); 91 patients were from simplex families, and 7 from multiplex families.
98
Clinical diagnosis of ASD based on DSM-IV and confirmed by ADI-R and ADOS.
Range, 3-18 yrs.
84.69% Male
330310
0
1
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
2446761
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
94269
4
1
5
halgren_12_DD/ID_discovery_cases
Second child of healthy unrelated parents with a complex de novo chromosomal rearrangement [t(12;18)(q21.31;q12.2), inv18(q12.2q22.1).arr12q21.31(83,761,458-83,857,594)x1, 18q12.2(34,810,178-34,867,844)x1, 18q12.2(35,007,705-35,049,456)x1, 18q22.1(65,284,854-65,430,839)x1 dn].
1
Developmental delay/intellectual disability (DD/ID) with additional behavioral disorders, including autistic features. Case diagnosed with behavioral disorder, oppositional defiant disorder, and mixed specific developmental disorder (all according to ICD-10) at age of 13 years; screening for major psychiatric disease using Mini International Diagnostic Interview (V5.0.0) that refers to DSM-IV at age of 27 years failed to yield single diagnosis.
27 yrs.
Male
57667
2
0
2
husson_20_ASD_discovery_cases
A subset of 679 unrelated subjects diagnosed with ASD or Asperger syndrome recruited from 2009-2017 by clinicians of a local expert center
253
Cases diagnosed with ASD or Asperger syndrome according to DSM-IV-TR criteria (evaluations based on ADOS-2, ADI-R, and/or CARS).
N/A
81.4% Male
199839
0
1
1
krumm_13_ASD_discovery_cases
Probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Diagnosis of ASD. Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
81.265% Male
11718
2
1
3
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
11718
1
1
2
leppa_16_ASD_discovery_cases
Children affected with ASD from 1,464 families from the Autism Genetic Resource Exchange (AGRE)
1764
Diagnosis according to ADOS and ADI-R
N/A
N/A
800000
0
1
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
90573
0
1
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
816914
1
0
1
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
94270
2
0
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
783770
1
0
1
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
1061881
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
89061
6
3
9
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
136700
2
0
2
xu_16_ASD/DD/ID_discovery_cases
Patients referred to the Duke Autism Genetics Clinic for clinical genetic evaluation of ASD and DD/ID from 2010-2014
115
66 cases with confirmed primary diagnosis of ASD (DSM-IV, DSM-5, ADOS, and ADI-R used to support ASD diagnosis), 49 cases with primary diagnosis of DD or ID (based on IQ and DQ scores).
Range, 18 months-15.1 years (mean age, 5.7 years)
72.17% Male
474000
0
1
1
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
120090
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
62056
3
2
5
guo_17_ASD_discovery_controls
Control subjects screened for rare, large (>1 Mb) CNVs
988
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
Mean, 34.3 years
N/A
1135580
1
0
1
krumm_13_ASD_discovery_controls
Unaffected siblings of ASD probands from quad families ascertained as part of the Simons Simplex Collection (SSC); CNVs detected using data from four previously published exome sequencing studies (O'Roak et al., 2011; Iossifov et al., 2012; O'Roak et al., 2012; Sanders et al., 2012)
411
Control (unaffected siblings of ASD probands). Social Responsiveness Scale (SRS) used as a quantitative measure of social deficits
N/A
46.47% Male
0
0
0
0
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
0
0
0
0
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
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)
783770
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.
37451
3
2
5
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
120090
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
barone_17_ASD/ID_discovery_cases
Italy
aCGH
BlueGnome CytoChip Oligo SNP 4x180K v2
Agilent Extraction Software v11.5, Agilent Genomic Workbench v7.0.4.0
MLPA
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
chehbani_22_ASD_discovery_cases
Tunisia
aCGH
Agilent SurePrint G3
ADM-2
Agilent Cytogenomic v.4.0.3.12.
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
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
None
halgren_12_DD/ID_discovery_cases
Denmark
Array SNP
Affymetrix 6.0
Genotyping Console (Affymetrix)
None
husson_20_ASD_discovery_cases
France
WES
Illumina HiSeq4000
CANOES
ddPCR, QMPSF, aCGH
krumm_13_ASD_discovery_cases
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
Solid phase hybridization (Illumina 1M), aCGH (Agilent SurePrint G3 4x180K), or confirmed by manual inspection
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
leppa_16_ASD_discovery_cases
N/A
Solid phase hybridization
Illumina 550v1 and 550v3, Omni-1.0-B and -H, Omni 2.5
PennCNV, QuantiSNP, GNOSIS
GenomeStudio, CNVision
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
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)
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
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
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
xu_16_ASD/DD/ID_discovery_cases
N/A
aCGH, array SNP
BlueGnome CytoChip v2, Affymetrix 6.0, Affymetrix Cytoscan HD
Affymeytrix Genotyping Console v3.0.2
None
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
guo_17_ASD_discovery_controls
Chinese Han
Solid phase hybridization
Illumina 610K BeadChip
PennCNV
qPCR
krumm_13_ASD_discovery_controls
N/A
WES
Whole exome sequencing platforms used in four recent publications (O'Roak et al., 2011; Sanders et al., 2012; O'Roak et al., 2012, and Iossifov et al., 2012)
DNACopy, CGHCall
CoNIFER
None
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
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
barone_17_ASD/ID_discovery_cases-case1
7 yrs.
F
Autism and intellectual disability
Diagnosis of autism confirmed by ADOS and ADI-R. ADI-R scores: Qualitative Abnormalities in Reciprocal Social Interaction, 19 (cut-off 10); Communication, 11 (cut-off 8); Restricted, Repetitive, and Stereotyped Patterns of Behavior, 5 (cut-off 3). ADOS module 1 scores: Socal Affect domain score of 10 (cut-off 7), Restrictive Repetitive Behavior domain score of 3. Birth/neonatal history: delivered at term after uneventful pregnancy by C-section for acute fetal distress; birth weight of 3300 g (50th %ile), length of 51 cm (50th %ile), head circumference of 35 cm (50th %ile); hospitalized at 4 months for generalized hypotonia (reduced axial and limb tone, as well as abnormal quality and quantity of spontaneous movements, observed). Developmental milestones: walked independently at 24 months of age following enrollment in a physical therapy program; severely delayed langauge. Language and communication evaluation: able to produce two-word sentences at 6 years; expressive language characterized by echolalia and idiosyncratic speech; communication limited to indicating primary needs with poor gesture use and impaired coordination of gaez and speech. Motor and musculoskeletal evaluation: impaired fine and global motor coordination; tapering fingers; pes planus; bilateral partial syndactyly of the second and third toes. Behavioral/psychiatric evaluation: hyperkinetic behavior; impulsive behavior; impaired social reciprocity; frequent motor stereotypes (hand flapping, blinking); attraction to non-specific items; exhibition of repetitive activities with mechanical objects. Epilepsy/seizures: three episodes of febrile seizures between ages of 6-52 months. Dysmorphic features: high and prominent forehead, closely spaced eyes, short nose with narrow nasal tip, small mouth, micrognathia. Growth parameters: obesity (weight of 44.5 kg, >>90th 5ile, BMI of 25); height of 134 cm (90th-97th %ile), head circumference of 56 cm (<90th %ile). Family history: first child born to unrelated parents; family history is positive for language disorder in father (negative for 18q12.2 deletion) and for behavioral and emotional abnormalities in mother (mother also carries 18q12.2 deletion); one phenotypically normal younger sister.
Moderate intellectual disability (based on evaluation on Griffith Mental Development Scales at age of 6 years); heterogeneous developmental profile (developmental ages of 34 months for global motor development, 36 months for socialization skills, and 42 months for hearing-language and eye-hand coordination). VABS composite score in average range when adjusted for IQ; functioning on the receptive, expressive, play, and interpersonal relationships domains was below average.
37105074
37379655
274582
GRCh38
Deletion
Yes
barone_17_ASD/ID_discovery_cases-case2
30 yrs.
F
Intellectual disability and autistic behavior
Motor and musculoskeletal evaluation: postural tremors of the hands. Behavioral/psychiatric evaluation: autistic behavior (unusual gaze contact, some difficulties in emotion recognition, and reciprocal social communication); score of 8 in Socal Affect domain on ADOS-module 4 evaluation (cut-off of 7), but not in the area of Restricted Repetitive Behavior; attention deficit (attention liability and concrete thinking). Dysmorphic features: high forehead, deeply set eyes, thin upper lip. Growth parameters: obesity (weight of 105 kg; BMI 41.5). Family history: more severely affected daughter who also carries 18q12.2 deletion.
Mild intellectual disability (WAIS-IV FSIQ of 55, VIQ of 56, PIQ of 59); VABS composite score and individual domain scores for communication, daily living skills, and socialization were above average when adjusted for IQ
37105074
37379655
274582
GRCh38
Deletion
Yes
celestino-soper_11_ASD_discovery_cases-11461
NA
M
ASD
NA
NA
37275137
37275283
147
GRCh38
Duplication
No
chehbani_22_ASD_discovery_cases-case95
NA
M
ASD and intellectual disability
Case diagnosed with ASD based on DSM-IV criteria and confirmed by ADI-R and ADOS-2.
Intellectual disability.
37248660
37578969
330310
GRCh38
Duplication
No
digregorio_17_DD/ID_discovery_cases-DECIPHER_296601
N/A
F
Developmental delay/intellectual disability
35303184
37749944
2446761
GRCh38
Deletion
Yes
engchuan_15_ASD_discovery_cases-case14049_850
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39371087
39465356
94270
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14256_3790
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39379406
39465356
85951
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case14262_3850
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39371087
39465356
94270
GRCh38
Deletion
No
engchuan_15_ASD_discovery_cases-case20037_1239001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39555359
39592810
37452
GRCh38
Duplication
No
engchuan_15_ASD_discovery_cases-case20187_1464001
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
39590975
39644108
53134
GRCh38
Deletion
No
halgren_12_DD/ID_discovery_cases-case1
27 yrs.
M
Developmental delay/intellectual disability (DD/ID)
Case diagnosed with behavioral disorder, oppositional defiant disorder, and mixed specific developmental disorder (all according to ICD-10) at age of 13 years; screening for major psychiatric disease using Mini International Diagnostic Interview (V5.0.0) that refers to DSM-IV at age of 27 years failed to yield single diagnosis. Patient karyotype: t(12;18)(q21.31;q12.2), inv18(q12.2q22.1).arr12q21.31(83,761,458-83,857,594)x1, 18q12.2(34,810,178-34,867,844)x1, 18q12.2(35,007,705-35,049,456)x1, 18q22.1(65,284,854-65,430,839)x1 dn. Birth/neonatal history: amniocentesis performed due to advanced maternal age (de novo translocation involving chromosomes 12 and 18 detected); born by uncomplicated vaginal delivery at 40 weeks; unremarkable neonatal period. Developmental milestones: walked independently at 12 months; no delay in language development; motor delay. Language and communication evaluation: no delay in language development. Motor and musculoskeletal evaluation: difficulties with complex motor tasks. Behavioral/psychiatric evaluation: diagnosed with hyperkinetic disorder at age of 6 (treated with methylphenidate); described as aggressive, with immature and oppositional behavior, having problems with impulsivity and attention shifting, and with lack of emotional reciprocity; signs of autistic behavior with indications of concrete thinking, impairment of social interaction skills, vagueness in description of others, lack of concentration over time, hyperactivity, and impulsive behavior; inability to develop peer relationships. Epilepsy/seizures: hospitalized at 23 months of age due to series of three febrile seizures (did not experience recurrent seizures, EEG not performed). Vision evaluation: myopia (estimated -3 diopters). Dysmorphic features: none. Growth parameters: height 180 cm, weight 110kg, head circumference 61 cm; BMI of 34 (obesity). Family history: second child of healthy unrelated parents.
Borderline IQ. IQ of 71 at age of 13 years (Weschler Intelligence Scale for Children-Revised).
37427742
37469493
41752
GRCh38
Deletion
No
halgren_12_DD/ID_discovery_cases-case1
27 yrs.
M
Developmental delay/intellectual disability (DD/ID)
Case diagnosed with behavioral disorder, oppositional defiant disorder, and mixed specific developmental disorder (all according to ICD-10) at age of 13 years; screening for major psychiatric disease using Mini International Diagnostic Interview (V5.0.0) that refers to DSM-IV at age of 27 years failed to yield single diagnosis. Patient karyotype: t(12;18)(q21.31;q12.2), inv18(q12.2q22.1).arr12q21.31(83,761,458-83,857,594)x1, 18q12.2(34,810,178-34,867,844)x1, 18q12.2(35,007,705-35,049,456)x1, 18q22.1(65,284,854-65,430,839)x1 dn. Birth/neonatal history: amniocentesis performed due to advanced maternal age (de novo translocation involving chromosomes 12 and 18 detected); born by uncomplicated vaginal delivery at 40 weeks; unremarkable neonatal period. Developmental milestones: walked independently at 12 months; no delay in language development; motor delay. Language and communication evaluation: no delay in language development. Motor and musculoskeletal evaluation: difficulties with complex motor tasks. Behavioral/psychiatric evaluation: diagnosed with hyperkinetic disorder at age of 6 (treated with methylphenidate); described as aggressive, with immature and oppositional behavior, having problems with impulsivity and attention shifting, and with lack of emotional reciprocity; signs of autistic behavior with indications of concrete thinking, impairment of social interaction skills, vagueness in description of others, lack of concentration over time, hyperactivity, and impulsive behavior; inability to develop peer relationships. Epilepsy/seizures: hospitalized at 23 months of age due to series of three febrile seizures (did not experience recurrent seizures, EEG not performed). Vision evaluation: myopia (estimated -3 diopters). Dysmorphic features: none. Growth parameters: height 180 cm, weight 110kg, head circumference 61 cm; BMI of 34 (obesity). Family history: second child of healthy unrelated parents.
Borderline IQ. IQ of 71 at age of 13 years (Weschler Intelligence Scale for Children-Revised).
37230215
37287881
57667
GRCh38
Deletion
No
husson_20_ASD_discovery_cases-case390
4 yrs.
F
ASD
Diagnosis of ASD
37066866
37266704
199839
GRCh38
Duplication
Yes
krumm_13_ASD_discovery_cases-case11942.p1
N/A
M
ASD
ASD proband from SSC quad family 11942. SRS score of 65.
Full-scale IQ (FSIQ) score of 50.
35373455
35374292
838
GRCh38
Deletion
Yes
krumm_13_ASD_discovery_cases-case12656.p1
N/A
M
ASD
ASD proband from SSC quad family 12656. SRS score of 83.
Full-scale IQ (FSIQ) score of 40.
36256967
36268685
11719
GRCh38
Duplication
No (not tested)
krumm_13_ASD_discovery_cases-case13443.p1
N/A
M
ASD
ASD proband from SSC quad family 13443. SRS score of 76.
Full-scale IQ (FSIQ) score of 102.
35373455
35374292
838
GRCh38
Deletion
No (not tested)
krumm_15_ASD_discovery_cases-case12656.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
36256967
36268685
11719
GRCh38
Duplication
Yes
krumm_15_ASD_discovery_cases-case13811.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Trio
36116673
36124700
8028
GRCh38
Deletion
Yes
leppa_16_ASD_discovery_cases-AU3451301
N/A
M
ASD
38535036
39341036
806001
GRCh38
Duplication
No
levy_11_ASD_discovery_cases-12656.p1
NA
M
ASD
NA
NA
36255366
36345938
90573
GRCh38
Duplication
No
marshall_08_ASD_discovery_cases-SK0152-003
NA
M
ASD
RL/EL moderate/sever delay, severe speech unintelligibility, moderate repetitive behavior, hypotonia
LOF 31
36340100
37157014
816915
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case14049_850
NA
M
Autism
Phrase speech delay, no epilepsy, gastrointestinal problems, growth delay, neurodevelopmental delay at 2 y, no dysmorphic features
Mild MR
39371087
39465356
94270
GRCh38
Deletion
Yes
pinto_10_ASD_discovery_cases-case14262_3850
NA
M
ASD
No language delay, no epilepsy, neurodevelopmental delay at 2 y, no dysmorphic features
Normal IQ
39371087
39465356
94270
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case85179L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
32171928
32955697
783770
Unknown
Deletion
No
quintela_17_DD/ID_discovery_cases-caseID_18
1 yr.
F
Developmental delay
Dysmorphic facial features
Global developmental delay
36171295
37233175
1061881
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-11251.p1
7.3
M
Autism
NA
Full-scale IQ, 84; non-verbal IQ, 84; verbal IQ, 88
35760285
35771860
11576
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11327.p1
11.3
M
ASD
NA
Full-scale IQ, 84; non-verbal IQ, 86; verbal IQ, 83
36298120
36308115
9996
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11696.p1
13.6
M
Autism
NA
Full-scale IQ, 95; non-verbal IQ, 94; verbal IQ, 98
37336837
37351117
14281
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11809.p1
6.6
M
Autism
NA
Full-scale IQ, 92; non-verbal IQ, 95; verbal IQ, 91
35767818
35790015
22198
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12233.p1
5.5
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 99
39555359
39592810
37452
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-12656.p1
10.9
M
Autism
NA
Full-scale IQ, 40; non-verbal IQ, 46; verbal IQ, 29
36257532
36346593
89062
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13089.p1
8.4
M
Autism
NA
Full-scale IQ, 77; non-verbal IQ, 88; verbal IQ, 48
39644108
39659114
15007
GRCh38
Duplication
No
sanders_11_ASD_discovery_cases-13233.p1
13.6
M
Autism
NA
Full-scale IQ, 90; non-verbal IQ, 95; verbal IQ, 84
37748496
37753370
4875
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-13266.p1
7.9
M
Autism
NA
Full-scale IQ, 87; non-verbal IQ, 95; verbal IQ, 81
39258335
39279238
20904
GRCh38
Deletion
No
szatmari_07_ASD_discovery_cases-NAAR031-A8-3212.005
NA
ASD
NA
NA
36540039
36676739
136701
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR031-E7-3212.001
NA
ASD
NA
NA
36540039
36676739
136701
GRCh38
Deletion
Yes
xu_16_ASD/DD/ID_discovery_cases-case31
N/A
N/A
Developmental delay
Primary diagnosis of developmental delay based on DQ scores.
36327449
36801213
473765
GRCh38
Duplication
No
yin_16_ASD_discovery_cases-case533
N/A
N/A
ASD
Cases diagnosed with autistic disorder according to DSM-IV and confirmed by using the Chinese version of ADI-R.
37574771
37694860
120090
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-controlB252464_1007874872
N/A
N/A
Control
No previous psychiatric history
37081624
37143680
62057
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB378731_1007852637
N/A
N/A
Control
No previous psychiatric history
39544667
39600782
56116
GRCh38
Duplication
No
engchuan_15_ASD_discovery_controls-controlB829591_1007854754
N/A
N/A
Control
No previous psychiatric history
38979513
39027402
47890
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900365_900365
N/A
N/A
Control
No previous psychiatric history
36977313
37018440
41128
GRCh38
Deletion
No
engchuan_15_ASD_discovery_controls-controlHABC_900613_900613
N/A
N/A
Control
No previous psychiatric history
36952075
37002570
50496
GRCh38
Deletion
No
guo_17_ASD_discovery_controls-controlPY2746
N/A
N/A
Control
No history of ASD or any other psychiatric diseases; no family history of psychiatric, neurological or autoimmune diseases
38253337
39388916
1135580
GRCh38
Deletion
Yes
sanders_11_ASD_discovery_controls-11327.s1
9.5
F
Control (matched sibling)
NA
NA
36302485
36308932
6448
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11696.s1
16.8
M
Control (matched sibling)
NA
NA
37336837
37349136
12300
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-12233.s1
6.8
F
Control (matched sibling)
NA
NA
39555359
39592810
37452
GRCh38
Duplication
No
sanders_11_ASD_discovery_controls-12424.s1
6.2
F
Control (matched sibling)
NA
NA
35770275
35774468
4194
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-13089.s1
11.1
F
Control (matched sibling)
NA
NA
39644108
39659114
15007
GRCh38
Duplication
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
barone_17_ASD/ID_discovery_cases-case1
MLPA
Maternal
Maternal
Multi-generational
Likely segregated
KIAA1328,CELF4
barone_17_ASD/ID_discovery_cases-case2
MLPA
Unknown
Multi-generational
Likely segregated
KIAA1328,CELF4
celestino-soper_11_ASD_discovery_cases-11461
Unknown
Simplex
NA
CELF4
chehbani_22_ASD_discovery_cases-case95
Unknown
Simplex
CELF4
digregorio_17_DD/ID_discovery_cases-DECIPHER_296601
qPCR
De novo
MIR3975,NRBF2P1,MIR187,MIR3929,MIR4318,RPL12P40,ZNF271P,ZNF24,ZNF396,INO80C,C18orf21,SLC39A6,MOCOS,TPGS2,RPRD1A,ELP2,KIAA1328,CELF4,GALNT1,FHOD3
engchuan_15_ASD_discovery_cases-case14049_850
Unknown
engchuan_15_ASD_discovery_cases-case14256_3790
Unknown
engchuan_15_ASD_discovery_cases-case14262_3850
Unknown
engchuan_15_ASD_discovery_cases-case20037_1239001
Unknown
engchuan_15_ASD_discovery_cases-case20187_1464001
Unknown
MIR924
halgren_12_DD/ID_discovery_cases-case1
De novo
Simplex
Likely segregated
CELF4
halgren_12_DD/ID_discovery_cases-case1
De novo
Simplex
Likely segregated
KIAA1328,CELF4
husson_20_ASD_discovery_cases-case390
ddPCR, QMPSF, or aCGH
Maternal
Simplex
Unknown
KIAA1328,CELF4
krumm_13_ASD_discovery_cases-case11942.p1
aCGH (Agilent SurePrint G3 4x180K)
Maternal
Simplex
Segregated
ZNF396
krumm_13_ASD_discovery_cases-case12656.p1
Maternal
Simplex
Segregated
MOCOS
krumm_13_ASD_discovery_cases-case13443.p1
Maternal
Simplex
Segregated
ZNF396
krumm_15_ASD_discovery_cases-case12656.p1
Illumina 1MDuo
Maternal
Simplex
Segregated
MOCOS
krumm_15_ASD_discovery_cases-case13811.p1
Omni2.5-4v1
Paternal
Simplex
Segregated
SLC39A6
leppa_16_ASD_discovery_cases-AU3451301
Paternal
Simplex
Segregated (CNV not present in unaffected sibling)
RN7SKP182,RNU6-706P,RPL7AP66
levy_11_ASD_discovery_cases-12656.p1
Maternal
Simplex
Segregated
MOCOS,FHOD3
marshall_08_ASD_discovery_cases-SK0152-003
qPCR, qmPCR
Unknown
NA
NA
TPGS2,KIAA1328,FHOD3
pinto_10_ASD_discovery_cases-case14049_850
qPCR-Maternal
maternal
Simplex
NA
pinto_10_ASD_discovery_cases-case14262_3850
qPCR-Paternal
paternal
Simplex
NA
prasad_12_ASD_discovery_cases-case85179L
Unknown
Unknown
Unknown
C18orf10,KIAA1328,FHOD3
quintela_17_DD/ID_discovery_cases-caseID_18
Unknown
Unknown
MOCOS,TPGS2,ELP2,KIAA1328,FHOD3
sanders_11_ASD_discovery_cases-11251.p1
Paternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-11327.p1
Paternal
Simplex (quad-proband matched)
Not segregated
FHOD3
sanders_11_ASD_discovery_cases-11696.p1
Paternal
Simplex (quad-proband matched)
Not segregated
CELF4
sanders_11_ASD_discovery_cases-11809.p1
Maternal
Simplex (quad-proband matched)
Segregated
sanders_11_ASD_discovery_cases-12233.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-12656.p1
Maternal
Simplex (quad-proband matched)
Segregated
MOCOS,FHOD3
sanders_11_ASD_discovery_cases-13089.p1
Paternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13233.p1
Maternal
Simplex (quad-proband matched)
Not segregated
sanders_11_ASD_discovery_cases-13266.p1
Paternal
Simplex (quad-proband matched)
Not segregated
szatmari_07_ASD_discovery_cases-NAAR031-A8-3212.005
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
FHOD3
szatmari_07_ASD_discovery_cases-NAAR031-E7-3212.001
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
FHOD3
xu_16_ASD/DD/ID_discovery_cases-case31
Unknown
TPGS2,FHOD3
yin_16_ASD_discovery_cases-case533
Unknown
Unknown
Unknown
MIR4318,RPL12P40
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-controlB252464_1007874872
Unknown
KIAA1328
engchuan_15_ASD_discovery_controls-controlB378731_1007852637
Unknown
engchuan_15_ASD_discovery_controls-controlB829591_1007854754
Unknown
RN7SKP182
engchuan_15_ASD_discovery_controls-controlHABC_900365_900365
Unknown
KIAA1328
engchuan_15_ASD_discovery_controls-controlHABC_900613_900613
Unknown
KIAA1328
guo_17_ASD_discovery_controls-controlPY2746
qPCR
Unknown
RN7SKP182,RNU6-706P,RPL7AP66
sanders_11_ASD_discovery_controls-11327.s1
Paternal
Simplex (quad)
NA
FHOD3
sanders_11_ASD_discovery_controls-11696.s1
Paternal
Simplex (quad)
NA
CELF4
sanders_11_ASD_discovery_controls-12233.s1
Paternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-12424.s1
Maternal
Simplex (quad)
NA
sanders_11_ASD_discovery_controls-13089.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available