6q25.2-q25.3CNV Type: Deletion
Largest CNV size: 4600000 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
A de novo deletion in this region contains the ARID1B gene was identified in a male patient with ASD and intellectual disability.
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
Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B.
Deletion
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
halgren_11_ASD/DD/ID_discovery_cases
Patients referred to genetic evaluation due to developmental delay
7
All cases diagnosed with developmental delay/intellectual disability (DD/ID). Two cases with diagnosis of ASD, two cases with autistic traits.
Range, 3 yrs.-46 yrs.
14.3% Male
4600000
1
0
1
jiao_19_EP/DD/ID_discovery_cases
Consecutive pediatric patients with neurological disorders who visited Wuhan Children's Hospital between Jan 2017 and Dec 2018
220
Epilepsy/seizures were the most identified phenotype in this cohort (139/220, 63.2%), with developmental delay observed in 100 patients (45.45%), intellectual disability in 54 patients (24.5%), and autism/autistic behavior in 10 patients (4.5%).
Range, 1 mo.- 14 yrs.
60.45% Male
4250000
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
522446
1
0
1
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
821225
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
engchuan_15_ASD_discovery_controls
Platform-matched controls from three large studies: SAGE (Study of Addiction Genetics and Environment), Ontario Colorectal Cancer study, and HABC (Health Aging and Body Composition)
2342
Controls; subjects had no previous psychiatric history
N/A
46.67% Male
314820
1
0
1
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
halgren_11_ASD/DD/ID_discovery_cases
European
aCGH, array SNP, solid phase hybridization
Agilent Oligoarray 400K, Affymetrix 250K, Agilent 44K, Affymetrix 250K and Illumina Sentrix HumanHap300, Agilent Human Genome CGH Micorarray 44B, Agilent Oligoarray 244K
None
jiao_19_EP/DD/ID_discovery_cases
China
WGS
Low-coverage whole genome sequencing
Illumina BclToFastq
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
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
engchuan_15_ASD_discovery_controls
Caucasian
Solid phase hybridization
Illumina 1M
None
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
halgren_11_ASD/DD/ID_discovery_cases-patient6
20 yrs.
F
ASD
Third child born to healthy unrelated parents. Pregnancy was complicated by oligohydramnios and risk for preterm labor. She was born by uncomplicated vaginal delivery at term with BW 3,050 g, BL 50 cm, and OFC 33 cm. Neonatally generalized hypotonia, hypothermia, feeding difficulties, and mild dysmorphic features were noted. Developmental milestones were delayed, e.g. walked at 30 months of age. Since early childhood she suffered from complex partial seizures; EEG showed paroxysmal activity in the left temporal region and right frontal region. She was diagnosed with intellectual disability and ASD. At the latest clinical examination, 18 years old, height was 152 cm (5th centile), weight 48 kg (10-25th centile), and OFC 54 cm (25-50th centile). Dysmorphic features included a long face with premature aging, low frontal hairline, hypotelorism, a broad nasal tip, thin vermilion of the upper lip, and thick everted vermilion of the lower lip. She had no speech. She had strabismus, severe myopia, flat arches of feet, asymmetrical breasts, supernumerary nipple, and winged scapulae. Brain MRI showed mega cisterna magna, agenesis of splenium and the posterior portion of CC.
Intellectual disability
152467147
157114703
4647557
GRCh38
Deletion
No
jiao_19_EP/DD/ID_discovery_cases-case71924
10 yrs.
Female
Developmental delay
Developmental milestones: global developmental delay, delayed speech and language development. Motor and musculoskeletal evaluation: motor deterioration, muscle weakness. Additional medical history: vomiting. Dysmorphic features: abnormality of the hair.
154493610
158645269
4151660
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003888
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
155123107
155645553
522447
GRCh38
Deletion
Yes
quintela_17_DD/ID_discovery_cases-caseID_267
7 yrs.
M
Intellectual disability
Additional clinical information N/A
Intellectual disability
154976621
155797845
821225
GRCh38
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
engchuan_15_ASD_discovery_controls-control110036017424_
N/A
N/A
Control
No previous psychiatric history
154926221
155241041
314821
GRCh38
Deletion
No
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
halgren_11_ASD/DD/ID_discovery_cases-patient6
De novo
Simplex
Likely segregated
NANOGP11,HSPD1P16,VIP,TUBB4BP7,RNA5SP224,RNA5SP225,MTCO2P31,MTATP6P31,MTCO3P31,MTND3P20,MTND4LP20,MTND4P13,RNU6-896P,HMGB3P19,RPS4XP8,RNU6-824P,MIR1273C,RNU7-152P,MIR1202,SNORD28B,MIR4466,FBXO5,MTRF1L,TFB1M,CLDN20,SYNE1,MYCT1,IPCEF1,CNKSR3,SCAF8,NOX3,ARID1B,RGS17,OPRM1,TIAM2
jiao_19_EP/DD/ID_discovery_cases-case71924
Unknown
Unknown
Unknown
RPS4XP8,RNU6-824P,MIR1273C,RNU7-152P,MIR1202,SNORD28B,MIR4466,LDHAL6FP,MIR3692,HSPE1P26,RNU6-786P,SYNJ2-IT1,SRP72P2,RN7SL173P,CACYBPP3,MIR7161,DYNLT1,TFB1M,CLDN20,TMEM242,SERAC1,GTF2H5,TATDN2P2,CNKSR3,SCAF8,NOX3,ARID1B,ZDHHC14,SNX9,SYNJ2,TMEM181,TIAM2,TULP4
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003888
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
TFB1M,CLDN20,NOX3,TIAM2
quintela_17_DD/ID_discovery_cases-caseID_267
Unknown
Unknown
RNU7-152P,TFB1M,CLDN20,NOX3,TIAM2
Controls
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
engchuan_15_ASD_discovery_controls-control110036017424_
Unknown
TIAM2
No Animal Model Data Available