16q22.1-q22.2CNV Type: Deletion
Largest CNV size: 948985 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
References
Major 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
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
1100000
0
2
2
saia_23_TS_discovery_cases
Patients with a clinical diagnosis of Tourette syndrome enrolled between April 2021 and April 2022 (Child and Adolescent Neurology and Psychiatry of the Medical and Experimental Department, Catania University).
93
Cases were diagnosed with Tourette syndrome (TS) according to DSM-5 criteria; symptoms of TS were evaluated with the Yale Global Tic Severity Rating Scale (YGTSS). Co-morbidities included intellectual disability, obsessive compulsive disorder (OCD), oppositional defiant disorder (ODD), ADHD, and ASD.
Mean age, 12.1 +/- 3.1 yrs.
76.3% Male
1050794
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
948985
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
saia_23_TS_discovery_cases
Italy
aCGH
Agilent 8x60K
ADM-2
Agilent Feature Extraction v.11.5, Agilent Genomic Workbench v.7.0.4.0.
MLPA, RT-PCR
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
qPCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
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
leppa_16_ASD_discovery_cases-AU1551302
N/A
M
ASD
70275097
71405097
1130001
GRCh38
Duplication
No
leppa_16_ASD_discovery_cases-AU1551303
N/A
M
ASD
70275097
71405097
1130001
GRCh38
Duplication
No
saia_23_TS_discovery_cases-case4
NA
NA
Tourette syndrome
Case diagnosed with Tourette syndrome (YGTSS score 45). Motor and musculoskeletal evaluation: tapered hands, thin fingers, pectus excavatum, 2-3 toe syndactyly. Behavioral/psychiatric evaluation: anxiety disorder. Additional medical history: headache. Dysmorphic features: flat filter, small nose.
69799149
70849942
1050794
GRCh38
Duplication
Yes
sanders_11_ASD_discovery_cases-12691.p1
10.9
F
Autism
NA
Full-scale IQ, 34; non-verbal IQ, 32; verbal IQ, 39
69938062
70887047
948986
GRCh38
Deletion
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
leppa_16_ASD_discovery_cases-AU1551302
Paternal
Multiplex
Segregated (CNV present in both affected siblings)
RN7SL279P,RPS27P26,RNU6-23P,SNORD111B,SNORD111,RNU6ATAC25P,DDX19B,DDX19A,FUK,SF3B3,MTSS1L,VAC14-AS1,CMTR2,CALB2,ST3GAL2,COG4,IL34,VAC14,HYDIN,AARS
leppa_16_ASD_discovery_cases-AU1551303
Paternal
Multiplex
Segregated (CNV present in both affected siblings)
RN7SL279P,RPS27P26,RNU6-23P,SNORD111B,SNORD111,RNU6ATAC25P,DDX19B,DDX19A,FUK,SF3B3,MTSS1L,VAC14-AS1,CMTR2,CALB2,ST3GAL2,COG4,IL34,VAC14,HYDIN,AARS
saia_23_TS_discovery_cases-case4
MLPA, RT-PCR
Paternal
AARS1,HYDIN,VAC14,PDPR,DDX19A,MTSS2,EXOSC6,IL34,FCSK,CLEC18C,CLEC18A,MIR140,SNORD111,SNORD111B,VAC14-AS1,RPS27P26,SMG1P7,MIR1972-2,DDX19A-DT,RNU6-23P,ST3GAL2,RN7SL279P,NPIPB14P,PDXDC2P,WWP2,DDX19B,SF3B3,COG4
sanders_11_ASD_discovery_cases-12691.p1
qPCR
De Novo
Simplex (quad-proband matched)
Segregated
MIR1972-2,CLEC18C,EXOSC6,RN7SL279P,RPS27P26,RNU6-23P,SNORD111B,SNORD111,RNU6ATAC25P,CLEC18A,PDXDC2P,SMG1P7,DDX19B,DDX19A,FUK,SF3B3,MTSS1L,VAC14-AS1,WWP2,PDXDC2P-NPIPB14P,NPIPB14P,PDPR,ST3GAL2,COG4,IL34,VAC14,HYDIN,AARS
Controls
No Control Data Available
No Animal Model Data Available