8q21.13-q21.3CNV Type: Deletion
Largest CNV size: 5890400 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo deletion within this region was observed in a female patient with agenesis of the corpus callosum, developmental delay/intellectual disability, deficits in expressive and receptive language skills, hypotonia, and behavioral problems (Sajan et al., 2013).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
5890400
1
0
1
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
sajan_13_ACC/CBLH/PMG_discovery_cases-case1610-0
N/A
F
ACC
Diagnosis of agenesis of the corpus callosum (ACC). ASD: no. Seizures: no. Neurological features: hypotonia, deficits in expressive and receptive language skills, difficulty verbalizing, deficits in motor oral skills. Behavioral problems: low tolerance level, poor self control. Dysmorphic features: prominent ears. Ocular and auditory problems: chronic otitis media, hyperopia, strabismus. Gastrointestinal problems: constipation. Musculoskeletal problems: pectus excavatum. Brain imaging: complete ACC, normal pituitary gland, large ventricle sizue, no Probst bundles, decreased white matter volume, and normal myelination observed on brain MRI.
Developmental delay: yes. Intellectual disability: yes.
81844856
87728701
5883846
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
sajan_13_ACC/CBLH/PMG_discovery_cases-case1610-0
qPCR
De novo
Unknown
Unknown
HNRNPA1P4,LINC01419,TPM3P3,RNU6-1040P,ACTBP6,C8orf59,REXO1L8P,REXO1L1P,REXO1L12P,REXO1L11P,REXO1L10P,REXO1L9P,REXO1L2P,REXO1L5P,REXO1L6P,NTAN1P2,SLC2A3P4,MIOXP1,GOLGA2P1,UBE2Q2P10,VTA1P2,IARS2P1,LRRCC1,CA13,CA3,CA2,REXO1L3P,REXO1L4P,PSKH2,CPNE3,LINC02235,RALYL,E2F5,CA1,CA3-AS1,ATP6V0D2,SLC7A13,WWP1,RMDN1,CNGB3,CNBD1
Controls
No Control Data Available
No Animal Model Data Available