Xp21.3-p21.1CNV Type: Deletion
Largest CNV size: 4594899 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A de novo Xp21.3-p21.1 deletion was identified in an ASD proband from the Autism Simplex Collection (Yuen et al., 2017).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
mazzonetto_24_ASD/DD/ID_discovery_cases
Patients from a total of 15 non-profit organizations and university centers located in different states of Brazil who were enrolled between July 2021 and June 2022 and referred with unexplained neurodevelopmental delay/intellectual disability, autism spectrum disorder (ASD), and/or multiple congenital anomalies.
1363
"95% of individuals in this cohort reported with the HPO phenotype ""Abnormality of the nervous system"" (HP:0000707); the HPO phenotypes ""Intellectual disability"" (HP:0001249; 36%), ""Global developmental delay"" (HP:0001263; 32%), and ""Autism"" (HP:0000717; 28%) were the most frequently reported phenotype subcategories within this subset of individuals."
63.17% Male
4262832
1
0
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
4594899
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
mazzonetto_24_ASD/DD/ID_discovery_cases
Brazil
Low-pass WGS
Illumina NovaSeq 6000
SNP-FASST2 (HMM)
BioDiscovery NxClinical
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
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
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530663
M
No phenotypic information provided
28782911
33045742
4262832
GRCh38
Deletion
No
yuen_17_ASD_discovery_cases-case1-0487-003
N/A
N/A
ASD
Case cohort: The Autism Simplex Collection . Clinical description: N/A
27170484
31765383
4594900
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
mazzonetto_24_ASD/DD/ID_discovery_cases-caseDECIPHER530663
Unknown
NR0B1,DMD,FTHL17,TASL,GK,TAB3,FTLP2,TBCAP1,CKS1BP6,TAB3-AS1,PIGFP3,NPM1P8,MAGEB4,MAGEB3,MAGEB2,MAGEB1,MIR548F5,PLCE1P1,MIR3915,RNA5SP500,MIR4666B,RNA5SP501,GK-AS1,DMD-AS3,TAB3-AS2,GK-IT1,RNU6-894P,IL1RAPL1
yuen_17_ASD_discovery_cases-case1-0487-003
Affymetrix 6.0
De novo
Simplex
Segregated
PTP4A1P5,PPP4R3C,DCAF8L1,MIR6134,RNA5SP500,MIR4666B,PIGFP3,MAGEB2,MAGEB3,MAGEB4,PLCE1P1,NR0B1,CKS1BP6,FTLP2,GK-IT1,TAB3-AS2,FTHL17,RNU6-894P,MAGEB10,MAGEB1,CXorf21,GK-AS1,TAB3-AS1,DCAF8L2,GK,TAB3,IL1RAPL1,DMD
Controls
No Control Data Available
No Animal Model Data Available