6q25.1-q25.3CNV Type: Deletion
Largest CNV size: 8200000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo deletion in this region contains the ARID1B gene was identified in a female with developmental delay and seizures.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
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
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
8200000
1
0
1
Controls
No Control Data Available
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
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
halgren_11_ASD/DD/ID_discovery_cases-patient7
9 yrs.
F
Developmental delay/intellectual disability
First of two children born to unrelated healthy parents; her younger brother was healthy. She was born at term by vaginal delivery after a normal pregnancy with BW 2,890 g, BL 46 cm, and OFC 33.5 cm. Paleness, difficulties in breast feeding, bradycardia, and heart murmur were noticed during the neonatal period. Developmental milestones were delayed, e.g. she walked at 2 years and spoke single words at 3 years. When 4 years old, she presented with absences seizures and an EEG showed epileptiform activity with solitary and joined sharp-wave complex within the left hemisphere with a maximum centrotemporal. Dysmorphic features included deeply set eyes, downslanted palpebral fissures, low frontal hairline, wide mouth, thick vermilion of the lower lip, microdontia. Fingers and toes were broad with sandal gap. Hypertrichosis was noticed on arms and back. She had nystagmus, the vision was impaired, and the hearing was normal. At the age of 8 years and 9 months her height was 124 cm (-2 SD) and weight 26.5 kg (-0.5 SD). She had problems with concentration and focus, severe expressive language disorder (said only yes or no), and there was no eye contact. Brain MRI showed partial agenesis of the corpus callosum, slightly smaller splenium corpus callosum, thin anterior commisure, thin tracti optici.
Developmental delay
150706519
158758666
8052148
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
halgren_11_ASD/DD/ID_discovery_cases-patient7
De novo
Simplex
Likely segregated
PDCL3P5,ARL4AP5,RNU6-302P,RNU6-300P,RNU6-1247P,RNY4P20,RN7SKP268,HSPA8P15,RNU6-813P,SYNE1-AS1,RNA5SP223,NANOGP11,HSPD1P16,VIP,TUBB4BP7,RNA5SP224,RNA5SP225,MTCO2P31,MTATP6P31,MTCO3P31,MTND3P20,MTND4LP20,MTND4P13,RNU6-896P,HMGB3P19,RPS4XP8,RNU6-824P,MIR1273C,RNU7-152P,MIR1202,SNORD28B,MIR4466,LDHAL6FP,MIR3692,HSPE1P26,RNU6-786P,SYNJ2-IT1,SRP72P2,RN7SL173P,CACYBPP3,MIR7161,DYNLT1,AMZ2P2,RMND1,ARMT1,FBXO5,MTRF1L,TFB1M,CLDN20,TMEM242,SERAC1,GTF2H5,TATDN2P2,PLEKHG1,AKAP12,ZBTB2,CCDC170,SYNE1,MYCT1,IPCEF1,CNKSR3,SCAF8,NOX3,ARID1B,ZDHHC14,SNX9,SYNJ2,TMEM181,SYTL3,ESR1,RGS17,OPRM1,TIAM2,TULP4,MTHFD1L
Controls
No Control Data Available
No Animal Model Data Available