5q23.1-q23.2CNV Type: Duplication
Largest CNV size: 192901 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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare structural variation of synapse and neurotransmission genes in autism.
Duplication
Genome wide analysis in a family with sensorineural hearing loss, autism and mental retardation.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
192901
0
1
1
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
6084351
2
1
3
mosrati_12_ASD/MR_discovery_cases
Affected siblings from a consanguineous Tunisian family with moderate to profound congenital hearing loss associated with mental retardation and autistic behavior.
3
Congenital hearing loss (3/3), mental retardation (2/3), and autistic traits (2/3)
Range, 22-31 yrs.
66.67% Male
96859
1
0
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
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gai_11_ASD_replication_cases
European
Solid phase hybridization
Illumina Infinium II HumanHap550 BeadChip
BeadStudio 3.0
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
mosrati_12_ASD/MR_discovery_cases
Tunisian
Solid phase hybridization
Illumina HumanCyto12v2.0 BeadChip
QuantiSNP, PennCNV, VanillaICE
BeadStudio V3.3
None
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
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
gai_11_ASD_replication_cases-AU1135202
Autism
121432686
121625586
192901
Unknown
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001137
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
120695675
124525372
3829698
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001717
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
118854384
122849602
3995219
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004003
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
120739630
126823984
6084355
GRCh38
Deletion
Yes
mosrati_12_ASD/MR_discovery_cases-caseV5
26 yrs.
M
Autistic traits
Behavioral and psychiatric evaluation: autistic traits reminiscent of Asperger syndrome. Language and communication evaluation: no oral speech; able to have coherent hand-sign conservation with mother and unaffected brother. Visual and auditory evaluation: moderate hearing loss. Family history: consanguineous parents; brother with autistic traits, mental retardation, and hearing loss; sister with mental retardation and hearing loss (no autistic traits).
No mental retardation
121470438
121567297
96859
Unknown
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gai_11_ASD_replication_cases-AU1135202
Inherited
LOX, ZNF474
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001137
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU4-69P,RPL23AP44,FTMT,ARGFXP1,RN7SL689P,RN7SL711P,KRT8P33,HMGB3P17,KRT18P16,HMGB1P29,LOX,ZNF474,MGC32805,PPIC,PRDM6,CEP120,SRFBP1,SNCAIP,SNX2,SNX24,CSNK1G3,LINC01170,LINC02201
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001717
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Paternal
Unknown
Unknown
PTMAP2,MIR1244-2,RNU6-373P,LAMTOR3P2,RNU6-701P,MIR5706,RN7SL174P,RNA5SP190,FABP5P6,FAM170A,RNU6-718P,PRELID3BP8,RNU4-69P,RPL23AP44,FTMT,ARGFXP1,LOX,ZNF474,MGC32805,DTWD2,DMXL1,TNFAIP8,SRFBP1,SNCAIP,SNX2,SNX24,HSD17B4,PRR16,LINC02201
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004003
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RPL23AP44,FTMT,ARGFXP1,RN7SL689P,RN7SL711P,KRT8P33,HMGB3P17,KRT18P16,HMGB1P29,HMGB1P22,RN7SKP117,RPSAP37,RNU6-290P,BOLA3P3,HSPE1P10,RNU6-752P,LOX,ZNF474,MGC32805,PPIC,PRDM6,CEP120,LINC02039,ALDH7A1,TEX43,LMNB1-DT,LMNB1,SRFBP1,SNCAIP,SNX2,SNX24,CSNK1G3,LINC01170,ZNF608,LINC02240,GRAMD2B,PHAX,LINC02201
mosrati_12_ASD/MR_discovery_cases-caseV5
Unknown
Multiplex
Unknown
ZNF474,LOC100505841
Controls
No Control Data Available
No Animal Model Data Available