9q34.2-q34.3CNV Type: Deletion-Duplication
Largest CNV size: 5400000 bp
Statistics Box:
Number of Reports: 10
Number of Reports: 10
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.
Duplication
Identification of candidate intergenic risk loci in autism spectrum disorder.
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
The clinical utility of molecular karyotyping using high-resolution array-comparative genomic hybridization.
Deletion
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Genomic diagnosis for children with intellectual disability and/or developmental delay.
Duplication
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bowling_17_DD/ID_discovery_cases
Individuals affected by developmental delay and/or intellectual disability and enrolled at North Alabama Children's Specialists (Huntsville, Alabama, USA)
371
Developmental delay (DD) and/or intellectual disability (ID); seizures in 45.3% of cases, ASD in 25.6% of cases
Average age of 10.56 yrs. (range: 2-54 yrs.)
57.7% Male
3993303
0
1
1
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
2542934
3
0
3
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
4123367
1
1
2
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
300000
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
120184
0
1
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
4797762
0
1
1
rots_24_ASD/DD/ID_discovery_cases
Individuals with 9q34.3 deletions or duplications from an initial cohort of 125 previously unreported patients with variants affecting the EHMT1 gene.
41
Individuals with 9q34.3 deletions or duplications frequently presented with autism spectrum disorder (ASD), developmental delay, intellectual disability, and/or seizures.
Range, newborn-53 yrs.
39.02% Male
3867395
1
0
1
tzetis_12_DD/ID_discovery_cases
Patients referred for aCGH analysis from 2008-present
334
Cases presented with at least one of the following clinical indications: developmental delay (DD), intellectual disability (ID), dysmorphic features, unique or multiple congenital anomalies (MCA), growth disorder, behavior disorder, and/or autism (ASD)
Range, 1 month-38 years (median age of 4 years)
5400000
1
0
1
walker_13_ASD_discovery_cases
Unrelated ASD probands previously described in Lionel et al., 2011 and Pinto et al., 2010 CNV reports
1491
Diagnosis of ASD based on gold-standard instruments including ADI and ADOS.
N/A
N/A
124905
0
1
1
yatsenko_12_ASD/DD/ID_discovery_cases
Unrelated children with variable phenotypes found to have a gain in DNA copy number in the subtelomeric 9q34 region revealed by aCGH, FISH, or chromosome analysis performed at Baylor College of Medicine and elsewhere.
20
Phenotypes include one or more of the following: ASD, DD, ID, dysmorphic features, multiple congenital anomalies (MCA)
Range, 1 yr.-16 yrs.
60.0% Male
949884
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
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)
120184
0
0
0
walker_13_ASD_discovery_controls
Control samples from the SAGE cohort (n=1287), from the Ottawa Heart Institute (n=1234), and from the POPGEN collection (n=1123)
3644
Control
N/A
N/A
124905
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bowling_17_DD/ID_discovery_cases
N/A
CMA, WGS
Microarray platform N/A, WGS platform Illumina HiSeq Xs
None
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
None
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
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
rots_24_ASD/DD/ID_discovery_cases
The majority of patients (25/41, 61%) came from the Netherlands.
Exome sequencing
tzetis_12_DD/ID_discovery_cases
Greece
aCGH
Agilent 244K, Agilent 4x180K
ADM-1
Agilent Feature Extraction V9.1, Agilent CGH Analytics V4.0, Illumina GenomeStudio V2011.1
None
walker_13_ASD_discovery_cases
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
Long-range PCR, qPCR
yatsenko_12_ASD/DD/ID_discovery_cases
NA
aCGH, FISH
Custom 9q34 oligonucleotide array (Agilent)
PCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
walker_13_ASD_discovery_controls
N/A
Array SNP, solid phase hybridization
Illumina 1M, Affymetrix 6.0
QuantiSNP, PennCNV, Birdsuite, iPattern, Affymetrix Genotyping Console
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
bowling_17_DD/ID_discovery_cases-case00039-C
N/A
N/A
Intellectual disability
Intellectual disability (moderate); Stereotypic behaviors; External hydrocephalus; Optic nerve hypoplasia
Moderate intellectual disability
134157704
138121676
3963973
GRCh38
Duplication
No
iourov_12_ASD/ID/EP_discovery_cases-case11
4 yrs. 3 mos.
M
Autism and intellectual disability
Autism, speech delay, syndactyly
Mild intellectual disability
131395364
132835306
1439943
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case26
4 yrs.
F
Developmental delay/intellectual disability
Speech delay, microcephaly, epicanthic fold, broad nasal bridge, hypertelorism, syndactyly, clinodactyly, protruding ears
Developmental delay/intellectual disability
132656175
135182650
2526476
GRCh38
Deletion
No
iourov_12_ASD/ID/EP_discovery_cases-case43
4 yrs.
M
Intellectual disability
Speech delay, facial dysmorphisms. Karyotype: 16qh-.
Intellectual disability, cognitive delay
132656179
133522334
866156
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004372
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
134174698
138138735
3964038
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004626
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
134428674
138154922
3726249
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown218
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB), CNV reported as 9q34.2 in original report
134429517
134727583
298067
GRCh38
Duplication
No
prasad_12_ASD_discovery_cases-case146450L
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
136480763
136600946
120184
Unknown
Duplication
No
quintela_17_DD/ID_discovery_cases-caseID_27
15 yrs.
M
Intellectual disability and ADHD
ADHD
Intellectual disability
133355773
138125937
4770165
GRCh38
Duplication
No
rots_24_ASD/DD/ID_discovery_cases-caseKS110038
5 yrs.
F
ASD, developmental delay, intellectual disability, and seizures
Developmental milestones: global developmental delay. Motor and musculoskeletal evaluation: hypotonia. Behavioral/psychiatric evaluation: involuntary movements, sensory hypersensitivity, autism spectrum disorder. Epilepsy/seizures: secondary generalized seizures. Brain imaging: cyst in the germinal layer, white matter ischemia. Additional medical history: cardiac anomalies (atrial septal defect, ventricular septal defect, pulmonary stenosis, bicuspid aortic valve), gastroeosphageal reflux, constipation, bilateral hearing impairment, cortical visual impairment, pulmonary disease (tracheomalacia, pulmonary hypertension, hypoventilation, chronic hypercapnia, chronic compensated respiratory acidosis), ectodermal anomalies (hirsutism, dry skin), sleep disturbance (sleep apnea).
Severe intellectual disability
134288333
138155727
3867395
GRCh38
Deletion
No
tzetis_12_DD/ID_discovery_cases-case74
M
DD/ID
Hypertelorism, downslanting palpebral fissures, epicanthus, short philtrum, arched palate, low set ears, syndactyly, seizures, heart defects, corpus callosum hypoplasia
132966443
138231664
5265222
GRCh38
Deletion
No
walker_13_ASD_discovery_cases-case2-1272-003
N/A
M
ASD
N/A
N/A
134447662
134572566
124905
GRCh38
Duplication
Yes
yatsenko_12_ASD/DD/ID_discovery_cases-caseP6
12 yrs.
M
Kleefstra syndrome
134171291
134944451
773161
GRCh38
Triplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
bowling_17_DD/ID_discovery_cases-case00039-C
De novo
Likely segregated
RNU6ATAC,LINC02247,MIR4669,COL5A1-AS1,MIR3689C,MIR3689A,MIR3689D1,MIR3689B,MIR3689D2,MIR3689E,MIR3689F,FCN2,FCN1,C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,WDR5,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,RXRA,COL5A1,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
iourov_12_ASD/ID/EP_discovery_cases-case11
Unknown
Unknown
Unknown
SNORD62A,SNORD62B,RN7SL328P,EIF4A1P3,RNU5D-2P,BARHL1,POMT1,UCK1,PRRT1B,NTNG2,SETX,GTF3C4,PRRC2B,RAPGEF1,MED27,TTF1,CFAP77,DDX31,AK8
iourov_12_ASD/ID/EP_discovery_cases-case26
Unknown
Unknown
Unknown
SPACA9,MIR548AW,RNU7-21P,EEF1A1P5,MIR6877,GBGT1,OBP2B,LCN1P1,LCN1P2,MED22,SNORD24,SNORD36B,SNORD36A,SNORD36C,SURF1,SURF2,SLC2A6,MYMK,DBH-AS1,BRD3OS,ARF4P1,RNU6ATAC,LINC02247,MIR4669,COL5A1-AS1,MIR3689C,MIR3689A,MIR3689D1,MIR3689B,MIR3689D2,MIR3689E,MIR3689F,FCN2,FCN1,GTF3C4,GFI1B,CEL,CELP,RALGDS,ABO,SURF6,RPL7A,SURF4,STKLD1,REXO4,CACFD1,FAM163B,DBH,BRD3,WDR5,OLFM1,DDX31,AK8,TSC1,GTF3C5,ADAMTS13,ADAMTSL2,SARDH,VAV2,RXRA,COL5A1
iourov_12_ASD/ID/EP_discovery_cases-case43
Unknown
Unknown
Unknown
SPACA9,MIR548AW,RNU7-21P,EEF1A1P5,MIR6877,GBGT1,OBP2B,LCN1P1,LCN1P2,MED22,SNORD24,SNORD36B,SNORD36A,SNORD36C,SURF1,SURF2,SLC2A6,MYMK,GTF3C4,GFI1B,CEL,CELP,RALGDS,ABO,SURF6,RPL7A,SURF4,STKLD1,REXO4,CACFD1,DDX31,AK8,TSC1,GTF3C5,ADAMTS13
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004372
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC02247,MIR4669,COL5A1-AS1,MIR3689C,MIR3689A,MIR3689D1,MIR3689B,MIR3689D2,MIR3689E,MIR3689F,FCN2,FCN1,C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,RXRA,COL5A1,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004626
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
COL5A1-AS1,MIR3689C,MIR3689A,MIR3689D1,MIR3689B,MIR3689D2,MIR3689E,MIR3689F,FCN2,FCN1,C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,RXRA,COL5A1,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
maini_18_ASD/DD/ID_discovery_cases-case_unknown218
Maternal
Unknown
Unknown
COL5A1-AS1,RXRA,COL5A1
prasad_12_ASD_discovery_cases-case146450L
Unknown
Unknown
Unknown
0 genes
quintela_17_DD/ID_discovery_cases-caseID_27
Unknown
Unknown
SURF1,SURF2,SLC2A6,MYMK,DBH-AS1,BRD3OS,ARF4P1,RNU6ATAC,LINC02247,MIR4669,COL5A1-AS1,MIR3689C,MIR3689A,MIR3689D1,MIR3689B,MIR3689D2,MIR3689E,MIR3689F,FCN2,FCN1,C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,SURF4,STKLD1,REXO4,CACFD1,FAM163B,DBH,BRD3,WDR5,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,ADAMTS13,ADAMTSL2,SARDH,VAV2,RXRA,COL5A1,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
rots_24_ASD/DD/ID_discovery_cases-caseKS110038
De novo
C8G,ENTPD2,CACNA1B,ABCA2,FCN1,COL5A1,FCN2,NDOR1,OBP2A,ANAPC2,EGFL7,MRPS2,DPP7,PHPT1,FBXW5,TOR4A,EXD3,RABL6,KCNT1,INPP5E,NPDC1,CARD9,EHMT1,MRPL41,DPH7,ARRDC1-AS1,SNHG7,TMEM203,TMEM141,ARRDC1,SAPCD2,UAP1L1,CCDC183,TMEM250,ZMYND19,NACC2,DIPK1B,PAEPP1,SLC34A3,LCN8,LINC02907,CAMSAP1,C9orf163,QSOX2,MAMDC4,LCN6,FUT7,GRIN1,TPRN,LCN12,PAXX,ENTPD8,GLT6D1,CYSRT1,PNPLA7,LCN15,LCN9,AJM1,LRRC26,CCDC187,LCNL1,COL5A1-AS1,LINC01451,SOHLH1,MIR126,NRARP,STPG3,LINC02908,LCN10,FAM166A,TUBBP5,RNF224,MIR602,SNORA17B,SNORA17A,RNF208,DNLZ,SOCS5P2,IL9RP1,SETP5,LINC01502,STPG3-AS1,NOTCH1,PAEP,LCN1,CCDC183-AS1,MAN1B1-DT,NCLP1,MIR4292,TMEM210,MIR3621,MIR3689B,MIR3689A,ATP6V1G1P3,MIR4669,MIR4673,MIR3689F,PPP1R26-AS1,MIR3689D1,MIR3689D2,MIR4674,MIR3689C,MIR3689E,MIR4479,RXRA,PTGDS,NALT1,LINC02692,MIR7114,MIR6722,LINC02846,LINC02247,TRAF2,SNAPC4,EDF1,SSNA1,LHX3,CLIC3,PPP1R26,SEC16A,TUBB4B,NOXA1,AGPAT2,MAN1B1,OLFM1,ENTR1,UBAC1,NSMF,NELFB,PMPCA,GPSM1
tzetis_12_DD/ID_discovery_cases-case74
Unknown
Unknown
EEF1A1P5,MIR6877,GBGT1,OBP2B,LCN1P1,LCN1P2,MED22,SNORD24,SNORD36B,SNORD36A,SNORD36C,SURF1,SURF2,SLC2A6,MYMK,DBH-AS1,BRD3OS,ARF4P1,RNU6ATAC,LINC02247,MIR4669,COL5A1-AS1,MIR3689C,MIR3689A,MIR3689D1,MIR3689B,MIR3689D2,MIR3689E,MIR3689F,FCN2,FCN1,C9orf62,SOCS5P2,MRPS2,LCN1,OBP2A,PAEP,PAEPP1,LCN9,SOHLH1,DKFZP434A062,DNLZ,ENTR1,C9orf163,MIR4673,MIR4674,NALT1,LINC01451,MIR126,SNORA17B,SNORA17A,LCN6,MIR6722,LCN15,ATP6V1G1P3,TMEM141,NCLP1,MIR4292,AJM1,PHPT1,EDF1,MIR4479,FBXW5,C8G,PTGDS,LCNL1,PAXX,CLIC3,FUT7,NPDC1,UAP1L1,MAN1B1-DT,DPP7,LRRC26,MIR3621,TMEM210,SSNA1,TMEM203,RNF208,CYSRT1,RNF224,TUBB4B,FAM166A,STPG3-AS1,STPG3,NRARP,ENTPD8,NSMF,MIR7114,MRPL41,ZMYND19,ARRDC1-AS1,SETP5,MIR602,GFI1B,CEL,CELP,RALGDS,ABO,SURF6,RPL7A,SURF4,STKLD1,REXO4,CACFD1,FAM163B,DBH,BRD3,WDR5,OLFM1,PPP1R26-AS1,PPP1R26,C9orf116,LINC01502,GLT6D1,CAMSAP1,UBAC1,TMEM250,LHX3,QSOX2,CCDC187,GPSM1,CARD9,SNAPC4,PMPCA,INPP5E,NOTCH1,HSPC324,EGFL7,AGPAT2,SNHG7,LCN10,LCN8,CCDC183,CCDC183-AS1,MAMDC4,TRAF2,LCN12,ABCA2,C9orf139,ENTPD2,SAPCD2,GRIN1,ANAPC2,TPRN,NDOR1,NELFB,TOR4A,NOXA1,DPH7,ARRDC1,TUBBP5,FAM157B,GTF3C5,ADAMTS13,ADAMTSL2,SARDH,VAV2,RXRA,COL5A1,KCNT1,NACC2,SEC16A,RABL6,PRR31,MAN1B1,SLC34A3,PNPLA7,EHMT1,CACNA1B,EXD3
walker_13_ASD_discovery_cases-case2-1272-003
Long-range PCR or qPCR
Paternal
Multiplex
Not segregated (duplication absent in affected sibling)
yatsenko_12_ASD/DD/ID_discovery_cases-caseP6
PCR
De novo
LINC02247,MIR4669,COL5A1-AS1,MIR3689C,MIR3689A,MIR3689D1,MIR3689B,MIR3689D2,MIR3689E,MIR3689F,FCN2,FCN1,RXRA,COL5A1
Controls
No Control Data Available
No Animal Model Data Available