2p25.2-p25.1CNV Type: Deletion-Duplication
Largest CNV size: 3800000 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Deletions within this region were identified in two cases with developmental delay from recent CNV reports (Kaminsky et al., 2011; Talkowski et al., 2012).
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...
Duplication
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Disruption of a large intergenic noncoding RNA in subjects with neurodevelopmental disabilities.
Deletion
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
hempel_15_ASD/DD/ID/EP_discovery_cases
Individuals identified through the DECIPHER collaboration with deletions of chromosome 2p25.2 that included the SOX11 gene
7
Cases present with developmental delay, intellectual disability, autism, and/or epilepsy
Range, 2 yrs. 3 mos.-34 yrs.
14.28% Male
2868934
1
0
1
kalsner_17_ASD_discovery_cases
Consecutive children with ASD evaluated in the Connecticut Children's Medical Center (CCMC) Autism Neurogenetics Program
100
All children enrolled in this study (i) had a confirmed diagnosis of ASD by a developmental-behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
Range, 21 mos.-17 yrs.
76.0% Male
621700
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
1430965
0
1
1
talkowski_12_DD_discovery_cases
Subjects from Signature Genomics, LabCorp, DECIPHER, or ISCA with CNVs overlapping LINC00299, a single CNV<10 Mb, and no other pathogenic CNVs.
4
Developmental delay (DD)
NA
NA
3800000
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
hempel_15_ASD/DD/ID/EP_discovery_cases
N/A
aCGH
Platform N/A
FISH
kalsner_17_ASD_discovery_cases
52 Caucasian (not Latino), 14.5 Hispanic/Latino, 7 African-American, 5 Asian, 21 more than one race/ethnicity
CMA
Platform not reported
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
talkowski_12_DD_discovery_cases
NA
N/A
N/A
N/A
N/A
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
hempel_15_ASD/DD/ID/EP_discovery_cases-case6
13 yrs.
F
Epilepsy
Birth/neonatal history: born at term, presented as an infant with feeding difficulties, microcephaly, and seizures. Developmental milestones: delayed speech. Motor and musculoskeletal evaluation: 5th finger clinodactyly.
5069743
7938678
2868936
GRCh38
Deletion
Yes
kalsner_17_ASD_discovery_cases-case2
N/A
N/A
ASD
Case (i) had a confirmed diagnosis of ASD by a developmental behavioral pediatrician or child neurologist experienced in ASD, (ii) scored in the full autism range on ADOS-2 and (iii) either met DSM-5 criteria for ASD or scored in the autism range on CARS-2
6404649
7026376
621728
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004469
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
6503572
7934538
1430967
GRCh38
Duplication
Yes
talkowski_12_DD_discovery_cases-caseS1
NA
NA
Developmental delay
Developmental delay
Developmental delay
5008537
8804967
3796431
GRCh38
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
hempel_15_ASD/DD/ID/EP_discovery_cases-case6
FISH
Unknown
Unknown
SOX11,LINC01810,MIR7158,PIK3CDP1,LINC01824,MIR7515,RN7SKP112,RNU6ATAC37P,LINC01871,LINC01247,MIR7515HG,LINC00487,NRIR,CMPK2,RSAD2,RNF144A-AS1,LINC01248,RNF144A,LINC00298
kalsner_17_ASD_discovery_cases-case2
Maternal
Unknown
Unknown
PIK3CDP1,LINC01824,MIR7515,MIR7515HG,LINC00487,NRIR,CMPK2,RSAD2,RNF144A-AS1,RNF144A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004469
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC01824,MIR7515,RN7SKP112,RNU6ATAC37P,LINC01871,MIR7515HG,LINC00487,NRIR,CMPK2,RSAD2,RNF144A-AS1,RNF144A,LINC00298
talkowski_12_DD_discovery_cases-caseS1
Unknown
Unknown
Unknown
SOX11,LINC01810,MIR7158,PIK3CDP1,LINC01824,MIR7515,RN7SKP112,RNU6ATAC37P,LINC01871,SNRPEP5,LINC01247,MIR7515HG,LINC00487,NRIR,CMPK2,RSAD2,RNF144A-AS1,ID2-AS1,ID2,LINC01248,RNF144A,LINC00298,LINC00299,LINC01814,KIDINS220
Controls
No Control Data Available
No Animal Model Data Available