9p24.2-p24.1CNV Type: Duplication
Largest CNV size: 420000 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
Copy number variation characteristics in subpopulations of patients with autism spectrum disorders.
Duplication
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bremer_11_ASD_discovery_cases
223 ASD cases (164 sporadic cases, 27 familial cases. 3 adopted, 4 family history unavailable) recruited from neuropediatric units in Stockholm County and from child & adolescent psychiatric outpatient clinics in Sweden
223
25 syndromic cases (dysmorphic features and/or growth disorders and/or malformations) with IQ within normal range, 45 cases syndromic with MR (IQ < 70), 60 cases non-syndromic with normal IQ, 93 cases non-syndromic with MR
71.3% Male
420000
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
4048642
0
1
1
monteiro_19_ASD_discovery_cases
Patients from an aCGH database from the Department of Genetics of the Faculty of Medicine, University of Porto, Portugal, over a 5-year-period (2012-2017).
253
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR
N/A
76.68% Male
2087000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
bremer_11_ASD_discovery_cases
Swedish
aCGH
BAC 33K, BAC 38K , Agilent 244K, Agilent 180K
MLPA, FISH
han_22_ASD/DD/ID_discovery_cases
Han Chinese
Array SNP
Affymetrix SNP 6.0, Affymetrix CytoScan HD
monteiro_19_ASD_discovery_cases
Portuguese
aCGH
Agilent SurePrint G3 4x180K
Agilent Cytogenomics
None
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
bremer_11_ASD_discovery_cases-case11
7
F
ASD
Non-syndromic ASD, familial case
MR (IQ<70)
4128618
4548970
420353
GRCh38
Duplication
Yes
han_22_ASD/DD/ID_discovery_cases-case17D167
3 mos. 26 days
F
Developmental delay
Case presented with 9p24 mosaic duplication (x34).
4486273
8534914
4048642
GRCh38
Duplication
No
monteiro_19_ASD_discovery_cases_case10
N/A
F
ASD and developmental delay
Diagnosis of ASD confirmed by ADOS and ADI-R and based on DSM-IV-TR. Developmental milestones: developmental delay. Dysmorphic features: none reported.
3221616
5308208
2086593
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
bremer_11_ASD_discovery_cases-case11
MLPA, FISH
Maternal
NA
NA
RNU6-694P,SLC1A1,GLIS3
han_22_ASD/DD/ID_discovery_cases-case17D167
De novo
MLANA,RANBP6,CD274,AK3,SPATA6L,CDC37L1,PLGRKT,RIC1,ERMP1,PDCD1LG2,DMAC1,IL33,TPD52L3,UHRF2,KIAA2026,RPL4P5,INSL4,IGHEP2,GLDC,PPIAP33,PLPP6,SNRPEP2,MIR101-2,RPL23AP57,HMGN2P31,SELENOTP1,TCF3P1,AK4P4,RPL35AP20,HNRNPA1P41,PDSS1P1,JAK2,GTF3AP1,RNF2P1,RNF152P1,ACTG1P14,ECM1P1,KLF4P1,CSNK1G2P1,MIR4665,MTND5P14,MTND1P11,MTND4P14,RPS3AP54,PTPRD,RLN1,RLN2,CDC37L1-DT,PRELID3BP11,LINC02851,RN7SL25P,RN7SL123P,SLC1A1,MTND6P5,MTCO1P11,MTCO3P11,MTCO2P11,MTATP6P11,RCL1,INSL6,KDM4C
monteiro_19_ASD_discovery_cases_case10
De novo
RNU6-694P,PLPP6,CDC37L1-DT,ECM1P1,KLF4P1,MIR101-2,HNRNPA1P41,CSNK1G2P1,PDSS1P1,MTND6P5,MTND1P11,MTCO1P11,MTCO2P11,MTATP6P11,MTCO3P11,MTND4P14,MTND5P14,IGHEP2,INSL4,RLN2,GLIS3-AS1,SLC1A1,CDC37L1,INSL6,RFX3,RFX3-AS1,SPATA6L,AK3,RCL1,JAK2,TCF3P1,GLIS3
Controls
No Control Data Available
No Animal Model Data Available