1q41-q42.11CNV Type: Duplication
Largest CNV size: 400226 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
CNV analysis in a cohort of 42 Korean patients with unexplained autism spectrum disorder, developmental delay, intellectual disability, and/or multiple congenital anomalies (MCA) identified a 400 kb 1q41-q42.11 duplication of unknown origin in a 2-year-old male proband with developmental delay and dystonia (Lee et al., 2017).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Chromosomal Microarray Testing in 42 Korean Patients with Unexplained Developmental Delay, Intellectual Disability, Autism Spectrum Disorders, and ...
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
guo_18_ASD/DD/ID_discovery_cases
Patients from 180 families (153 simplex, 27 multiplex) with at least one proband diagnosed with ASD who had been been clinically evaluated at the Seattle Children's Autism Center from SAGE collection
213
Patients were ascertained based on the presence of a diagnosis of ASD, intellectual disability (ID) or developmental delay (DD). ASD diagnoses were confirmed by meeting cutoff criteria on the Autism Diagnostic Observation Schedule and DSM-5 criteria; cognitive abilities were assessed using age-appropriate cognitive batteries, including DAS-2, Wechsler tests (WPPSI-IV, WISC-V, WASI-2), and Mullen.
N/A
N/A
1403799
1
0
1
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean patients who had negative test results for metabolic disorders and other suspected disorders and did not present with any recognizable syndrome
42
Cases diagnosed with unexplained autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID), and/or multiple congenital anomalies (MCA)
Range, newborn-38 yrs.
69.05% Male
400226
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
guo_18_ASD/DD/ID_discovery_cases
N/A
WGS
Illumina HiSeq X Ten
dCGH, Genome STRiP, LUMPY, WHAMG, CNVnator, DELLY
aCGH, Sanger sequencing
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
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
guo_18_ASD/DD/ID_discovery_cases-caseBK-460-03
N/A
M
ASD and intellectual disability
Intellectual disability (FSIQ 55, NVIQ 55, VIQ 64)
222508001
223911800
1403800
GRCh38
Deletion
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case2
2 yrs.
M
Developmental delay
Developmental delay, dystonia, family history of hereditary spastic paraplegia
223716115
224116341
400227
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
guo_18_ASD/DD/ID_discovery_cases-caseBK-460-03
aCGH, Sanger sequencing
Paternal
Simplex
Unknown
NDUFB1P2,RNU4-57P,CCDC185,SNRPEP10,RNU6-1248P,PHBP11,ACTBP11,HHIPL2,TAF1A-AS1,MIA3,BROX,FAM177B,TLR5,TP53BP2,TAF1A,AIDA,DISP1,CAPN8,CAPN2,SUSD4
lee_17_ASD/DD/ID/MCA_discovery_cases-case2
Unknown
PHBP11,ACTBP11,CICP5,RNU6-1319P,RN7SKP49,TP53BP2,GTF2IP20,CAPN2,FBXO28
Controls
No Control Data Available
No Animal Model Data Available