14q23.2-q23.3CNV Type: Deletion
Largest CNV size: 1500000 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A de novo 1.5Mb microdeletion on chromosome 14q23.2-23.3 in a patient with autism and spherocytosis.
Deletion
Evaluation of copy number variations reveals novel candidate genes in autism spectrum disorder-associated pathways.
Deletion
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Deletion
Performance of case-control rare copy number variation annotation in classification of autism.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_cases
Samples from the Autism Genome Project (AGP)
1892
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
N/A
85.78% Male
1523296
1
0
1
griswold_11_ASD_discovery_cases
Autistic proband from family that was part of the Collaborative Autism Project (originally described in Ma et al., 2009 ASD GWAS study).
1
Autism (based on ADI-R and ADOS criteria)
14
Male
1500000
1
0
1
griswold_12_ASD_discovery_cases
Unrelated ASD cases from the Collaborative Autism Project (CAP) ascertained through clinical groups at the University of Miami (HIHG), the University of South Carolina, and Vanderbilt University. 260 cases from multiplex families, 483 from simplex families, 62 from families with siblings having autistic-like traits without a confirmed ASD diagnosis, and 8 from families with monozygotic twins.
813
Daignosis of ASD/autism. Inclusion criteria: (1) age between 3-21 years, (2) presumptive clinical diagnosis of autism, (3) expert clinical determination of autism diagnosis using DSM-IV criteria supported by ADI-R in the majority of cases and all available clinical information, (4) minimal developmental level of 18 months as determined by VABS or VABS-II or IQ equivalent >35. Exclusion criteria: severe sensory problems, significant motor impairments, or previously identified metabolic, genetic, or progressive neurological disorder.
Range, 3-21 yrs.
NA
1523296
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
1523297
1
0
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
0
0
0
0
griswold_12_ASD_discovery_controls
Children recruited as pediatric controls from HIHG (Miami, FL) and preterm birth study at Centennial Medical Center (Nashville, TN)
592
Control
Range, preterm-21 yrs.
NA
1523296
0
0
0
sherman_21_ASD_discovery_controls
Unaffected siblings of ASD probands from the Simons Simplex Collection (n=2,424) and the SPARK cohort (n=3,076) screened for mosaic CNVs (mCNVs)
5500
Control (unaffected siblings of ASD probands)
Range, 3-18 yrs.
NA
504227
1
0
1
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_cases
Caucasian
Solid phase hybridization
Illumina 1M
Yes
griswold_11_ASD_discovery_cases
Solid phase hybridization
Illumina Human 1M BeadChip
PennCNV
qPCR
griswold_12_ASD_discovery_cases
Range of self-reported ethnicities (specifics NA)
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
qPCR
pinto_14_ASD_discovery_cases
Predominantly European
Solid phase hybridization
Illumina 1M (v.1 and v.3)
qPCR, MLPA, long-range PCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
griswold_12_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina Human 1M-v1_C BeadChip, Illumina 1M-DuoV3 BeadChip
Penn CNV, QuantiSNP
BeadStudio
sherman_21_ASD_discovery_controls
NA
Solid phase hybridization
Illumina 1Mv1, Illumina 1Mv3, Illumina Omni2.5, Illumina Infinium Global Screening Array-24 v.1.0
MoChA
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
engchuan_15_ASD_discovery_cases-case4272_1
N/A
N/A
ASD
Diagnosis of ASD based on Autism Diagnostic Observation Schedule (ADOS) and Autism Diagnostic Interview-Revised (ADI-R)
64287643
65810939
1523297
GRCh38
Deletion
Yes
griswold_11_ASD_discovery_cases-proband
14
M
Autism
Diagnosis of autism (ADI-R & ADOS) with deficits in reciprocal social interaction, verbal communication, & behavior. Obesity, macrocephaly (>95th centile), mild facial dysmorphism. Episodes of tachycardia, acid reflux, & spherocytosis. Family history: father with macrocephaly; mother with anxiety, panic disorder, and migraines; sister with anxiety and panic disorder; brother with anxiety, panic disorder, and diagnosis of ADHD.
Full Scale IQ=75
64263529
65763529
1500001
GRCh38
Deletion
Yes
griswold_12_ASD_discovery_cases-case17165
NA
NA
ASD/autism
NA
NA
64287643
65810939
1523297
GRCh38
Deletion
Yes
pinto_14_ASD_discovery_cases2-case4272_1
8 yrs.
M
ASD
Case reported in Griswold et al. 2012b (family 17165). ASD (based on medical history), ADI-R and ADOS: autism; ADHD, speech language disorder (articulation problems), anxiety disorder; had nuchal chord at birth and required oxygen; spherocytosis (deletion overlaps SPTB, involved in autosomal dominant spherocytosis), headaches, heart murmur, history of fifth disease (requiring 3 blood transfusions) and frequent ear and viral infections; macrocephaly, obese, no dysmorphic features, intention hand tremor; normal EEG. Family history: mother with anxiety/panic disorder, migraines, and fibromyalgia; father with bacterial meningitis, atrial fibrillation, and heart murmur; two unaffected siblings.
Borderline mild ID (WISC at 8 y: VIQ 67, PR 108, WM 77, PS 65, FSIQ 75)
64287643
65810939
1523297
GRCh38
Deletion
Yes
Controls
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
sherman_21_ASD_discovery_controls-SSC_14266.s1
NA
F
Control
Unaffected sibling from the Simons Simplex Collection. SCQ summary score: 0. Mosaic cell fraction: 0.4393. CNV occurs on the paternal haplotype.
63907321
64411547
504227
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_cases-case4272_1
De novo
MIR7855,RPPH1-2P,GPX2,MIR4706,RNU2-14P,LINC02324,RPL21P7,PTBP1P,MIR4708,FUT8-AS1,RPL21P8,MIR625,EIF1AXP2,MTHFD1,AKAP5,ZBTB1,HSPA2,PPP1R36,CHURC1,RAB15,ESR2,TEX21P,ZBTB25,PLEKHG3,SPTB,FUT8,CHURC1-FNTB,FNTB,MAX
griswold_11_ASD_discovery_cases-proband
qPCR
De novo
NA
NA
MIR7855,RPPH1-2P,GPX2,MIR4706,RNU2-14P,LINC02324,RPL21P7,PTBP1P,MIR4708,FUT8-AS1,RPL21P8,MIR625,EIF1AXP2,MTHFD1,AKAP5,ZBTB1,HSPA2,PPP1R36,CHURC1,RAB15,ESR2,TEX21P,ZBTB25,PLEKHG3,SPTB,FUT8,CHURC1-FNTB,FNTB,MAX
griswold_12_ASD_discovery_cases-case17165
qPCR
De novo
Simplex
Segregated
MIR7855,RPPH1-2P,GPX2,MIR4706,RNU2-14P,LINC02324,RPL21P7,PTBP1P,MIR4708,FUT8-AS1,RPL21P8,MIR625,EIF1AXP2,MTHFD1,AKAP5,ZBTB1,HSPA2,PPP1R36,CHURC1,RAB15,ESR2,TEX21P,ZBTB25,PLEKHG3,SPTB,FUT8,CHURC1-FNTB,FNTB,MAX
pinto_14_ASD_discovery_cases2-case4272_1
qPCR (Griswold et al. 2011, PMID: 21360829)
De novo
Simplex
Segregated (not present in 2 unaffected siblings)
MIR7855,RPPH1-2P,GPX2,MIR4706,RNU2-14P,LINC02324,RPL21P7,PTBP1P,MIR4708,FUT8-AS1,RPL21P8,MIR625,EIF1AXP2,MTHFD1,AKAP5,ZBTB1,HSPA2,PPP1R36,CHURC1,RAB15,ESR2,TEX21P,ZBTB25,PLEKHG3,SPTB,FUT8,CHURC1-FNTB,FNTB,MAX
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sherman_21_ASD_discovery_controls-SSC_14266.s1
ESR2,TEX21P,MTHFD1,MIR548H1,SYNE2
No Animal Model Data Available