12q24.21-q24.23CNV Type: Duplication
Largest CNV size: 3000000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A maternally-transmitted duplication containing the MED13L gene was identified in a male patient with speech delay, motor delay, learning disabilities, and dysmorphic features: the duplication segregated in the patient's family with dysmorphic features (Adegbola et al., 2015).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
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
adegbola_15_ID/DD_discovery_cases
Index patients with CNVs affecting the MED13L gene; 6 of these cases are present in DECIPHER database
7
Cases predominantly present with mild-moderate or moderate intellectual disability or developmental delay (one case with learning disability); cases also typically presented with delayed speech and language development, motor delay, and muscular hypotonia. Three cases presented with behavioral problems, including one case presenting with autistic behaviors
Range, 3-15 yrs.
42.86% Male
3000000
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
adegbola_15_ID/DD_discovery_cases
2 cases of Portuguese descent, 2 cases of Belgian descent, 1 case of American Caucasian descent, 1 case of French descent, and 1 case of Scottish, Irish and Ashkenazi Jewish descent
aCGH
Baylor BACs aCGH version V6, Agilent 105K
N/A
FISH
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
adegbola_15_ID/DD_discovery_cases-case7
8 yrs.
M
Learning disability
Case in DECIPHER database (no. 296365). Developmental milestones: delayed motor development, speech delay. Motor and musculoskeletal evaluation: tics; pectus excavatum. Behavioral/psychiatric evaluation: no behavioral abnormalities reported. EEG: generalized slowing and occasional frontal sharp waves; no organized seizure activity. Brain imaging: normal MRI and MRS. Cardiac defects: patent foramen ovale. Auditory evaluation: unilateral hearing loss. Dysmorphic features: triangular facies, short philtrum, prominent columella, low set ears with irregular antihelices, widely-spaced teeth, small testes. Growth parameters: height of 127 cm (10th-25th %ile), weight of 25 kg (25th %ile), and OFC of 54 cm (75th %ile). Family history: son of non-consanguineous parents of Scottish, Irish, and Ashkenazi Jewish descent; case's mother and female sibling have the same facial appearance and delayed menarche but no other significant medical issues (MED13L-containing duplication segregates with facial dysmorphism in the family).
Learning disabilities
114629223
117826547
3197325
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
adegbola_15_ID/DD_discovery_cases-case7
FISH
Maternal (dysmorphic features)
Maternal
Multi-generational (dysmorphic features)
Incomplete (segregated with regards to dysmorphic features; no segregation with neurodevelopmental phenotypes)
UBA52P7,RN7SL865P,RNU6-1188P,MIR620,SNRPGP18,MIR4472-2,LINC02457,LINC00173,RNU6-558P,ELOCP32,TBX3,MAP1LC3B2,C12orf49,HRK,TESC-AS1,LINC02463,MED13L,RNFT2,FBXW8,TESC,FBXO21,KSR2,NOS1
Controls
No Control Data Available
No Animal Model Data Available