5q21.3-q22.2CNV Type: Deletion
Largest CNV size: 5598125 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Deletion identified in a female patient with intellectual disability and epilepsy (Girirajan et al., 2012)
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
cucinotta_23_ASD_discovery_cases
Idiopathic ASD patients from 310 families (263 simplex and 47 multiplex) recruited at the Service for Neurodevelopmental Disorders at Campus Bio-Medico University Hospital in Rome (Italy) and at the Interdepartmental Program Autism 090 of the G. Martino University Hospital (Messina, Italy) between the years 2012 and 2019.
329
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
NA
84.19% Male
4184045
0
1
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
5598125
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
5598125
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
cucinotta_23_ASD_discovery_cases
Italy
aCGH
Agilent SurePrint 4180K
ADM-2
Agilent Feature Extraction v.10.7., Agilent Cytogenomic Software v.4.0.3.12.
None
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
cucinotta_23_ASD_discovery_cases-case470
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R. Brain imaging: presence of two circumscribed hyperintense lesional foci in the paratrigonal region bilaterally.
109324969
113509013
4184045
GRCh38
Duplication
No
girirajan_12_ASD/DD/ID_discovery_cases-case9460
22 yrs.
F
Intellectual disability and epilepsy
Hypotonia. Epilepsy. Hypernasal speech. Dysmorphic features: downslanting palpebral fissures, low-set rotated ears, frontal bossing, downturned mouth, unerupted teeth. Other features: strabismus, familial adenomatous polyposis. Growth parameters: weight >97th %ile, height 10th-25th, OFC 50th-75th %ile. Family history not specified. Patient previously reported in Heald et al.
Mild ID
107274815
112872944
5598130
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
cucinotta_23_ASD_discovery_cases-case470
Unknown
CAMK4,APC,EPB41L4A-DT,EPB41L4A,TSSK1B,TSLP,SLC25A46,EPB41L4A-AS1,STARD4,WDR36,DCP2,KRT18P42,RPS3AP21,TMEM232,SNORA13,BCLAF1P1,MCC,MAN2A1,LINC01848,MIR548F3,PGAM5P1,CBX3P3,STARD4-AS1,HMGN1P14,NREP-AS1,HMGB3P16,HMGN1P13,LINC02200,RN7SKP230,RN7SKP57,SRP19,ZRSR2P1,RNU4ATAC13P,RNU6-482P,XBP1P1,REEP5,MAN2A1-DT,NREP,PJA2
girirajan_12_ASD/DD/ID_discovery_cases-case9460
FISH, aCGH, or confirmation by inheritance
Unknown
Unknown
Unknown
RN7SL782P,RN7SKP122,LINC01023,RNU6-47P,KRT18P42,RN7SKP230,LINC01848,PGAM5P1,MIR548F3,BCLAF1P1,TSLP,HMGN1P13,RN7SKP57,HMGN1P14,EPB41L4A-AS1,SNORA13,EPB41L4A-DT,HMGB3P16,LINC02200,CBX3P3,RNU6-482P,PJA2,WDR36,STARD4,SRP19,EFNA5,MAN2A1,TMEM232,SLC25A46,CAMK4,STARD4-AS1,NREP,NREP-AS1,APC,FBXL17,EPB41L4A,FER,GJA1P1
Controls
No Control Data Available
No Animal Model Data Available