2p25.3-p25.2CNV Type: Duplication
Largest CNV size: 1115878 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Maternally-inherited duplication identified in a Finnish ASD case with no corresponding CNV identified in 269 Finnish controls
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Deletions and de novo mutations of SOX11 are associated with a neurodevelopmental disorder with features of Coffin-Siris syndrome.
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
6388813
0
1
1
han_22_ASD/DD/ID_discovery_cases
Probands with ASD or unexplained developmental delay/intellectual disability with or without other congenital anomalies from Shandong province in Northern China who were referred for genetic services from January 2014 to December 2018.
410
151 cases diagnosed with ASD (DSM-5 criteria, ADOS-2, confirmed by CARS score > 30) and 259 patients diagnosed with developmental delay/intellectual disability (DSM-5 criteria, confirmed by Gesell developmental scale DQ score < 75 and Wechsler Intelligence Scale for Children-Revised with IQ<70).
Mean age, 2 yrs. 11 mos.
68.78% Male
6403731
0
1
1
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
2614236
1
0
1
kanduri_15_ASD_discovery_cases
Autistic cases from an initial sample of 83 Finnish families comprising 257 family members following quality control
80
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patients screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and Asperger's Syndrome Diagnostic Interview.
N/A
N/A
1115878
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kanduri_15_ASD_discovery_controls
Unrelated Finnish samples from the cohort of Health 2000 survey from an initial sample of 288 individuals following quality control
269
Controls screened for DSM-IV mental disorders using the Composite International Diagnostic Interview and psychotic disorders using the research version of the Structured Clinical Interview for DSM-IV
N/A
N/A
0
0
0
0
sanders_11_ASD_discovery_controls
Matched siblings of autistic probands from the Simons Simplex Collection (SSC).
872
Controls
Mean, 10.0 yrs.
175344
1
0
1
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
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
hempel_15_ASD/DD/ID/EP_discovery_cases
N/A
aCGH
Platform N/A
FISH
kanduri_15_ASD_discovery_cases
Finnish
Solid phase hybridization
Illumina Human OmniExpress-12v1.0 BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kanduri_15_ASD_discovery_controls
Finnish
Solid phase hybridization
Illumina Infinium HD Human610-Quad BeadChip
QuantiSNP, PennCNV
Illumina BeadStudio
None
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
cucinotta_23_ASD_discovery_cases-case428
NA
NA
ASD
Clinical diagnosis of ASD based on fulfilling DSM-5 criteria and confirmed using ADOS-2 and ADI-R.
30340
6419152
6388813
GRCh38
Duplication
No
han_22_ASD/DD/ID_discovery_cases-case16D1511
1 yr.
F
Developmental delay
Facial dysmorphism
12770
6416500
6403731
GRCh38
Duplication
No
hempel_15_ASD/DD/ID/EP_discovery_cases-case1
12 yrs.
F
Autism
Birth/neonatal history: born at 41 weeks gestation by C-section due to fetal bradycardia and oligohydramnios; birth weight of 3685 g (50th %ile), length of 50 cm (50th %ile), head circumference of 35 cm (50th %ile). Developmental milestones: walked without support at 18 months, started speaking single words at 3 years 6 months, no further language development. Motor and musculoskeletal evaluation: poor fine motor skills; scoliosis, bilateral 5th finger clinodactyly, cutaneous syndactyly of toes 2-3. Behavioral/psychiatric evaluation: repetitive and stereotyped movements with hyperactivity and autism. Additional medical history: GERD. Dysmorphic features: mild facial asymmetry, right microphthalmia, wide mouth, thick lips, large simplified ears, inverted nipples. Growth parameters: height of 152 cm (25th-50th %ile), weight og 44 kg (75th %ile), and head circumference of 50.4 cm (<3rd %ile). Family history: first child of non-consanguineous parents.
Non-verbal IQ of 54
4243830
6765524
2521695
GRCh38
Deletion
Yes
kanduri_15_ASD_discovery_cases-case1993
N/A
N/A
ASD
Diagnosis of ASD based on DSM-IV, 4th edition, or ICD-10 criteria; patient screened based on Childhood Autism Rating Scale (CARS), Asperger Syndrome Screening Questionnaire, and/or Asperger's Syndrome Diagnostic Interview.
4245520
5361397
1115878
Unknown
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
sanders_11_ASD_discovery_controls-12447.s1
7.6
F
Control (matched sibling)
NA
NA
4193907
4369251
175345
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
cucinotta_23_ASD_discovery_cases-case428
Paternal
ACP1,SH3YL1,TRAPPC12,SNTG2,ADI1,ALLC,COLEC11,TMEM18,SILC1,ALKAL2,RNASEH1,LINC01115,NPM1P48,FAM110C,DCDC2C,LINC01249,LINC01874,MYT1L-AS1,GAPDHP48,LINC01304,TRAPPC12-AS1,EIPR1-IT1,LINC01250,SNTG2-AS1,LINC01875,LINC01939,RPS7,LINC01247,LINC01248,MIR7158,LINC01810,LINC01865,TMEM18-DT,TPO,EIPR1,SOX11,TMSB4XP2,RNU6-649P,PXDN,MYT1L
han_22_ASD/DD/ID_discovery_cases-case16D1511
Unknown
ACP1,SH3YL1,TRAPPC12,SNTG2,ADI1,ALLC,COLEC11,TMEM18,SILC1,ALKAL2,RNASEH1,LINC01115,NPM1P48,FAM110C,DCDC2C,LINC01249,LINC01874,MYT1L-AS1,GAPDHP48,LINC01304,TRAPPC12-AS1,EIPR1-IT1,LINC01250,SNTG2-AS1,LINC01875,LINC01939,RPS7,LINC01247,LINC01248,MIR7158,LINC01810,LINC01865,TMEM18-DT,TPO,EIPR1,SOX11,TMSB4XP2,RNU6-649P,PXDN,MYT1L
hempel_15_ASD/DD/ID/EP_discovery_cases-case1
FISH
De novo
Likely segregated
NPM1P48,RNU6-649P,SOX11,LINC01810,MIR7158,PIK3CDP1,LINC01824,MIR7515,LINC01249,LINC01247,MIR7515HG,LINC00487,LINC01248
kanduri_15_ASD_discovery_cases-case1993
Maternal
Unknown
Unknown
LOC727982 (non-coding RNA, exonic)
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
sanders_11_ASD_discovery_controls-12447.s1
Paternal
Simplex (quad)
NA
No Animal Model Data Available