9q21.13-q21.31CNV Type: Deletion
Largest CNV size: 6663942 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Rare singleton deletion within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
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...
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 ...
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
de_falco_23_DD/ID_discovery_cases
Third child of healthy non-consanguineous parents with a de novo 9q21.13 microdeletion affecting the RORB and TRPM6 genes
1
Case presented with global developmental delay, intellectual disability, autistic behavior, and seizures
7 yrs.
Male
8363030
1
0
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
6663942
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
7006510
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
de_falco_23_DD/ID_discovery_cases
Italy
aCGH
Agilent SurePrint 2x400K
NA
Agilent CytoGenomics v.5.0.2, Agilent Feature Extraction v.10.1, Agilent Workbench v.6.5.0.1
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
lee_17_ASD/DD/ID/MCA_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS v.3.2.0.1252
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
de_falco_23_DD/ID_discovery_cases-case1
7 yrs.
M
Developmental delay, intellectual disability, seizures, and autistic features
Birth/neonatal history: normal fetal karyotype observed following amniocentesis due to advanced maternal age; born at 39 weeks gestation from eutocic pregnancy; birth weight 2850 g (2nd-9th %ile), birth length 49 cm (9th-25th %ile), and birth head circumference 35 cm (50th-75th %ile). Developmental milestones: global developmental delay with delayed ability to walk (18 months) and speech delay (4 years). Motor and musculoskeletal evaluation: fifth finger clinodactyly, short hands, sandal gap. Behavioral/psychiatric evaluation: autistic behavior (tendency to isolate, poor eye contact). Epilepsy/seizures: absence seizures with onset at 2 years. EEG: bilateral middle parieto-temporal paroxysmal anomalies and rapid onset activity in the right temporal region. Brain imaging: symmetrical hyperintensity of the peri-trigonal white matter and prominent mesial subarachnoid peri-temporo-polar space noted on brain MRI at 4 years. Additional medical history: severe myopia. Dysmorphic features: upslanted palpebral fissures, hypertelorism, high palate, long philtrum, wide mouth, thin upper lip vermillion. Family history: three child of healthy and non-consanguineous parents; two older brothers do not have delayed psychomotor development, eye problems, or dysmorphism.
Intellectual disability
72890491
81253520
8363030
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005224
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
73706686
80370629
6663944
GRCh38
Deletion
Yes
lee_17_ASD/DD/ID/MCA_discovery_cases-case9
7 yrs.
M
Intellectual disability
Convulsion
Intellectual disability
72189115
79195626
7006512
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
de_falco_23_DD/ID_discovery_cases-case1
De novo
Simplex
ANXA1,ALDH1A1,OSTF1,PCA3,PSAT1,NMRK1,RFK,C9orf40,CEP78,CARNMT1,DPP3P2,TRPM6,ASS1P3,PRUNE2,GNAQ,GCNT1,KRT18P24,PPIAP87,ATP5MFP3,FOXB2,CHCHD2P9,RPSAP9,OTX2P1,LYPLA2P3,RBM22P5,CYP1D1P,RPS19P6,MTCO1P51,VPS13A-AS1,RFC5P1,NPAP1P6,NPAP1P4,RNA5SP286,MTND2P8,MTND2P9,LINC01507,GNA14-AS1,CARNMT1-AS1,PCSK5,RORB,LNCARSR,RORB-AS1,RN7SKP59,TLE4,RNU6-445P,RNU6-1228P,NUTF2P3,RNU6-1303P,RPSAP75,RN7SKP47,H3P32,GNA14,VPS13A
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005224
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNA5SP286,RN7SKP47,RPSAP75,RNU6-445P,C9orf40,RNU6-1228P,OTX2P1,RBM22P5,RFK,RPSAP9,PPIAP87,LYPLA2P3,FOXB2,ATP5MFP3,RFC5P1,VPS13A-AS1,NUTF2P3,RNU6-1303P,RN7SKP59,MTND2P8,CHCHD2P9,NPAP1P6,LINC01507,NPAP1P4,RORB-AS1,CARNMT1,NMRK1,PSAT1,LNCARSR,RORB,TRPM6,OSTF1,PCSK5,PRUNE2,PCA3,VPS13A,GNA14-AS1,GNAQ,CEP78,KRT18P24,GCNT1,GNA14,TLE4
lee_17_ASD/DD/ID/MCA_discovery_cases-case9
Unknown
RNA5SP285,RPS20P24,RPS27AP15,LINC01474,DPP3P2,RNA5SP286,RN7SKP47,RPSAP75,RNU6-445P,C9orf40,RNU6-1228P,OTX2P1,RBM22P5,RFK,RPSAP9,PPIAP87,LYPLA2P3,FOXB2,ATP5MFP3,RFC5P1,VPS13A-AS1,NUTF2P3,RNU6-1303P,RN7SKP59,MTND2P8,LINC01504,CYP1D1P,ANXA1,RORB-AS1,CARNMT1,NMRK1,PSAT1,GDA,TMC1,ALDH1A1,RORB,TRPM6,OSTF1,PCSK5,PRUNE2,PCA3,VPS13A,GNA14-AS1,GNAQ,CEP78,KRT18P24,ZFAND5,GCNT1,GNA14
Controls
No Control Data Available
No Animal Model Data Available