3q26.31-q26.32CNV Type: Deletion
Largest CNV size: 2077769 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
De novo deletion of TBL1XR1 in a child with non-specific developmental delay supports its implication in intellectual disability.
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
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
2077769
1
0
1
kucinska_24_ASD_discovery_cases
Patients referred from the Genetics Clinic and the Neurology Department of the Polish Mothers Memorial Hospital Research Institute from 20182021.
180
Cases diagnosed with ASD according to DSM-IV and DSM-5 criteria and assigned a disease code based on ICD-10 classification; a subset of cases also presented with motor and/or speech developmental delay, intellectual disability, and/or epilepsy.
Range, 2.4-17.9 yrs.
76.67% Male
638595
1
0
1
tabet_14_ID_discovery_cases
6-year-old female patient born to non-consanguineous, healthy, Caucasian parents
1
Mild-to-moderate intellectual disability (ID); cognitive assessment performed using Wechslet Intelligence Scale for Children (WISC IV). Behavioral evaluation conducted using Conners' Rating Scales-Revised, Achenbach's Child Behavior Checklist (CBCL), Constantino's Social Responsiveness Scale 2 (SRS-2), the Autism Spectrum Quotient, Children's version (AQ-Child), and the Childhood Autism Rating Scale (CARS).
6 yrs.
Female
1600000
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
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
kucinska_24_ASD_discovery_cases
Poland
aCGH
OGT CytoSure 4x180K
Agilent Feature Extraction v.12.1.0.3, CytoSure Interpret Software v.4.10.
tabet_14_ID_discovery_cases
Caucasian
Solid phase hybridization
Illumina Human Cyto SNP-12 V2
CNVPartition 3.1.6
Illumina Genome Studio v2011.1
FISH
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003871
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
174229765
176307536
2077772
GRCh38
Deletion
Yes
kucinska_24_ASD_discovery_cases-case15
M
ASD and developmental delay
Autism, motor and speech development delay, dyspraxia, stereotypic movements
175372620
176011214
638595
GRCh38
Deletion
No
tabet_14_ID_discovery_cases-case1
6 yrs.
F
Intellectual disability
Birth/neonatal history: born at 37 weeks after uneventful pregnancy; birth weight of 2400 g(-3 SD), birth length of 44 cm (-1.8 SD), head circumference not recorded. Developmental milestones: delayed development; started walking unsupported at 2 years of age, said first words at 2.5 years of age. Motor and musculoskeletal evaluation: psychomotor instability; long fingers and thumbs. Behavioral/psychiatric evaluation: no evidence of autistic behavior; short attention span, compulsive behavior (trichotillomania), reactional aggressive behavior; evaluation by Conners' Rating Scales-Revised was mildly atypical (full T-score of 70; normal <61) for parents' questionnaire and markedly atypical (full T-score of 98) for teachers' questionnaire; no significant scores, either for full scale or for various subscales, on Achenbach's Child Behavior Checklist (CBCL); Constantino's Social Responsiveness Scale 2 (SRS-2) indicated mild difficulties in social reciprocity (T-score: 63); score of Autism Spectrum Quotient, Children's Version (AQ-Child) was slightly, but significantly, abnormal (score of 82, cut-off of 76); score of 20.5 on Childhood Autism Rating Scale (cut-off for ASD is 30). Sleep disturbances: heavy sleeper (at least 11 hours/day). EEG: normal. Brain imaging: normal brain MRI. Dysmorphic features: square face, pointed chin, sparse eyebrows in medial part, epicanthus, bulbous nose, long and smooth philtrum, thin vermillion, had left esotropia (facial dysmorphism felt to be non-discriminant, as it largely represented inherited family traits). Growth parameters: height of 109.5 cm (-0.66 SD), weight of 16.700 kg (-0.55 SD), and head circumference of 52 cm (0.92 SD) at age of 6 years. Family history: parents are non-consanguineous and healthy; father was 34 years old and mother was 35 years old at time of birth.
Mild-to-moderate ID; full-scale IQ of 50 using Wechsler Intelligence Scale for Children (WISC IV), with normal Verbal Comprehension Index of 81, Perceptual Reasoning Index of 60, Working Memory Index of 50, and Processing Speed Index of 50; very weak in logicomathematic reasoning.
175789665
177377284
1587620
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003871
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
RN7SKP40,EEF1B2P8,MIR4789,RNU6-1233P,RNU4-91P,RNU6-1317P,NAALADL2-AS1,ACTG1P23,EI24P1,UBE2V1P2,NAALADL2-AS2,NLGN1,NAALADL2,NAALADL2-AS3
kucinska_24_ASD_discovery_cases-case15
Unknown
NAALADL2,ACTG1P23,UBE2V1P2,NAALADL2-AS1,RNU4-91P,RNU6-1317P,RNU6-1233P
tabet_14_ID_discovery_cases-case1
FISH
De novo
ACTG1P23,EI24P1,MIR7977,RNA5SP147,MTND5P15,RNU6-681P,ASS1P7,LINC01208,TBL1XR1-AS1,LINC00501,LINC01209,NAALADL2,TBL1XR1
Controls
No Control Data Available
No Animal Model Data Available