1p21.2-p21.1CNV Type: Duplication
Largest CNV size: 977000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A maternally-inherited duplication involving the OLFM3 gene was identified in a male patient with epilepsy, autistic features, and ADHD-like features.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Epileptic encephalopathies of the Landau-Kleffner and continuous spike and waves during slow-wave sleep types: genomic dissection makes the link wi...
Duplication
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
lesca_12_EP_discovery_cases
Epilepsy patients collected at four French hospitals from 2009: Strasbourg Univ. Hospital (n=40), Lyons Univ. Hospital (n=18), Henri Gastaut Hospital (St. Paul Centre) in Marseille (n=2), and Reims American Memorial Hospital (n=1).
61
Epilepsy/epileptic encephalopathy. 41 patients with continuous spike and wave during slow-wave sleep syndrome (CSWSS), 20 patients with Landau-Kleffner syndrome (LKS). 12 (out of 57) patients displayed autistic features; ADHD features (hyperactivity, attention deficit and/or aggressiveness) reported in 41/58 patients,
Mean age of diagnosis: 5.6 yrs. (range, 1-14 yrs.)
61% Male
977000
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
lesca_12_EP_discovery_cases
France
aCGH
Agilent SurePrint G3 Human CGH Microarray 4x180K
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent Genomic WORKBENCH v5.0.14
qPCR
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
lesca_12_EP_discovery_cases-case4-52
NA
M
Epilepsy
Phenotype: s-CSWSS . Seizure Characteristics: No seizures. Autistic features: Yes. ADHD features: Yes. Other features: Chiari type I malformation.
Initial cognitive development: Delayed. Cognitive regression: No.
101657543
102634106
976564
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
lesca_12_EP_discovery_cases-case4-52
qPCR
Maternal
Unknown
Unknown
RNU6-965P,RPSAP19,RNU6-352P,DNAJA1P5,OLFM3,LINC01709
Controls
No Control Data Available
No Animal Model Data Available