19q13.33-q13.41CNV Type: Deletion-Duplication
Largest CNV size: 96644 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
No Major Reports
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
Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Deletion
Haploinsufficiency of PRR12 causes a spectrum of neurodevelopmental, eye, and multisystem abnormalities
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chowdhury_21_ASD/ADHD/DD_discovery_cases
Individual carrying a de novo 19q13.33-q13.41 deletion who was included in a cohort of 21 previously unreported inidividuals with PRR12 variants identified via matchmaking platforms (GeneMatcher/Matchmaker Exchange).
1
Case presented with a diagnosis of autism spectrum disorder (ASD), ADHD, and developmental delay (DD).
9 yrs.
Male
3351692
1
0
1
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
218244
1
0
1
levy_11_ASD_discovery_cases
Autistic probands from 887 families from the Simons Simplex Collection (SSC)
858
ASD
87.06% Male
80882
1
0
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
96644
1
1
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
levy_11_ASD_discovery_controls
Unaffected siblings of autistic probands from 887 families from the Simons Simplex Collection (SSC)
863
Control
47.97% Male
81123
2
0
2
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
179545
2
0
2
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chowdhury_21_ASD/ADHD/DD_discovery_cases
NA
CMA
NA
NA
NA
None
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
None
levy_11_ASD_discovery_cases
aCGH
NimbleGen HD2
HMM
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
levy_11_ASD_discovery_controls
aCGH
NimbleGen HD2
HMM
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
chowdhury_21_ASD/ADHD/DD_discovery_cases-case24
9 yrs.
M
ASD, ADHD, and developmental delay
Birth/neonatal history: decreased fetal movements, neonatal hypotonia, neonatal feeding difficulties (NG-tube), failure to thrive. Developmental milestones: motor delay (gross motor delay, sitting without support at 12 months, walking at 3 years, fine motor delay), speech delay with language dysfluency. Motor and musculoskeletal evaluation: hypotonia, diminished reflexes. Behavioral/psychiatric evaluation: a diagnosis of autism spectrum disorder, ADHD. Additional medical history: bilateral iris coloboma, decreased visual acuity, myopia, right ptosis, kidney anomaly (asymmetrical in size, vesicoureteral reflux), ogival palate. Growth parameters: increased body weight (>+3.00 SD), tall stature (height +2.03 SD), macrocephaly (OFC +2.66 SD). Family history: his sister had moderate intellectual disability without dysmorphic features and a 19q13.33-q13.41 duplication, a cousin had intellectual disability, and his mother had learning difficulties.
49509170
52860861
3351692
GRCh38
Deletion
No
gai_11_ASD_replication_cases-AU041105
Autism
57516844
57735087
218244
Unknown
Deletion
No
levy_11_ASD_discovery_cases-11121.p1
NA
M
ASD
NA
NA
52331977
52412858
80882
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-11121.p1
10.3
M
Autism
NA
Full-scale IQ, 102; non-verbal IQ, 103; verbal IQ, 99
52331957
52413945
81989
GRCh38
Deletion
No
sanders_11_ASD_discovery_cases-12539.p1
7.9
M
Autism
NA
Full-scale IQ, 106; non-verbal IQ, 108; verbal IQ, 104
52370365
52467009
96645
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
levy_11_ASD_discovery_controls-11121.s1
NA
F
Control
NA
NA
52331977
52412858
80882
GRCh38
Deletion
No
levy_11_ASD_discovery_controls-11455.s1
NA
F
Control
NA
NA
52396360
52477482
81123
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11121.s1
16.2
F
Control (matched sibling)
NA
NA
52331957
52414098
82142
GRCh38
Deletion
No
sanders_11_ASD_discovery_controls-11455.s1
8.9
F
Control (matched sibling)
NA
NA
52396303
52575848
179546
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
chowdhury_21_ASD/ADHD/DD_discovery_cases-case24
De novo
Multiplex
Not segregated
KLK3,AP2A1,CD33,SIGLEC6,FPR1,FCGRT,FPR3,ETFB,FPR2,SIGLEC8,SIGLEC7,SIGLEC9,KLK12,KLK14,PTOV1,SHANK1,NOSIP,VRK3,KLK15,TSKS,SCAF1,RCN3,PRR12,ZNF83,ZNF701,ZNF350,ZNF649,TBC1D17,ZNF613,MYH14,BCL2L12,MED25,ZNF614,FUZ,AKT1S1,SYT3,ZNF528,ZNF611,ZNF577,LRRC4B,ZNF468,SIGLEC10,ZNF616,CTU1,ZNF766,ACP4,SIGLEC12,C19orf48,SIGLEC22P,IZUMO2,SIGLEC21P,SIGLEC18P,SIGLEC27P,SIGLEC24P,SIGLEC20P,JOSD2,CLDND2,SIGLEC29P,SIGLEC11,CPT1C,C19orf84,VSIG10L,ZNF534,ZNF480,SPACA6,ZNF578,ZNF600,ZNF836,ADM5,ZNF320,ZNF610,GPR32,PRMT1,IRF3,GPR32P1,HAS1,IL4I1,LINC01869,KLK9,SIGLEC17P,EMC10,ZNF615,SIGLECL1,NAPSB,ZNF841,C19orf81,ZNF808,PPIAP59,SIGLEC16,ZNF880,MIRLET7E,MIR99B,MIR125A,IGLON5,ASPDH,KLKP1,RPL37P23,DPPA5P1,SNORD88A,SNORD88C,SNORD88B,MIR643,SIGLEC14,CEACAM18,LINC01530,SIGLEC10-AS1,NKG7,KCNC3,KLK2,KLK1,MYBPC2,LIM2,NIFKP6,RPL39P34,RPL9P33,RPL7P51,PABPN1P2,PTOV1-AS1,MIR4750,MIR4749,MIR5088,MIR4751,ZNF350-AS1,PRRG2,KLK10,KLK7,KLK6,POLD1,PPP2R1A,RRAS,ZNF649-AS1,PTOV1-AS2,MIR6799,MIR6801,MIR8074,ZNF528-AS1,MIR6800,LINC01872,SPIB,NR1H2,CLEC11A,RNU6-841P,ZNF28,ZNF175,SIGLEC5,ZNF137P,VSIG10L-AS1,KLK4,NAPSA,ZNF432,KLK11,KLK8,PNKP,ATF5,NUP62,KLK5,KLK13,ZNF473
gai_11_ASD_replication_cases-AU041105
Inherited
ZNF480, ZNF610, LOC400713, ZNF528, ZNF534, ZNF578, ZNF808
levy_11_ASD_discovery_cases-11121.p1
Maternal
Simplex
Not segregated
ZNF610,ZNF880,ZNF528-AS1,ZNF528
sanders_11_ASD_discovery_cases-11121.p1
Maternal
Simplex (quad-proband matched)
Segregated
ZNF610,ZNF880,ZNF528-AS1,ZNF528
sanders_11_ASD_discovery_cases-12539.p1
Maternal
Simplex (trio)
NA
DPPA5P1,ZNF880,ZNF528-AS1,ZNF528,ZNF534,ZNF578
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
levy_11_ASD_discovery_controls-11121.s1
Maternal
Simplex
NA
ZNF610,ZNF880,ZNF528-AS1,ZNF528
levy_11_ASD_discovery_controls-11455.s1
Maternal
Simplex
NA
DPPA5P1,ZNF528-AS1,ZNF528,ZNF534,ZNF578
sanders_11_ASD_discovery_controls-11121.s1
Both parents
Simplex (quad)
NA
ZNF610,ZNF880,ZNF528-AS1,ZNF528
sanders_11_ASD_discovery_controls-11455.s1
Maternal
Simplex (quad)
NA
DPPA5P1,RPL39P34,ZNF528-AS1,ZNF528,ZNF534,ZNF578,ZNF808,ZNF701
No Animal Model Data Available