12q24.21-q24.22CNV Type: Duplication
Largest CNV size: 1271162 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Rare singleton duplication 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...
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
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
1900000
1
0
1
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
1271162
0
1
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
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
Agilent 180K custom array designed by Low Lands Consortium
Agilent Feature Extraction v10.5, Nexus Copy Number 5.0
None
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
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
adegbola_15_ID/DD_discovery_cases-case8
4 yrs.
F
Intellectual disability
Case in DECIPHER database (no. 272267). Birth/neonatal history: increased nuchal translucency and a single umbilical artery detected during pregnancy; born at term by ventouse delivery; birth weight of 3269 g (50th %ile), length of 49.5 cm (25th-50th %ile), OFC of 33 cm (10th %ile, -1.1 SD). Developmental milestones: delayed motor development (unaided sitting and walking at 12 and 36 months, respectively); expressive language delay (5-6 words spoken at age of 4 years). Motor and musculoskeletal evaluation: normal. Behavioral/psychiatric evaluation: no behavioral abnormalities reported. EEG: unknown. Brain imaging: normal cMRI. Cardiac defects: small perimembranous ventricular septal defect without hemodynamic repercussion detected by echocardiography at age of 2 months (closed spontaneously at age of 3 years). Dysmorphic features: round face, brachycephaly, bitemporal narrowing, deeply set eyes, horizontal and laterally extended eyebrows, lower lid entropion, depressed nasal bridge, low set and posteriorly rotated ears, open mouth with downturned corners, inverted and hypoplastic nipples, anteriorly placed anus. Growth parameters: height 50th %ile, weight 50th %ile, OFC 50th %ile. Family history: only child of non-consanguineous parents of Portuguese descent.
Moderate ID (IQ of 49)
115060006
116995100
1935095
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004704
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
116028938
117300100
1271163
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-case8
De novo
Simplex
Segregated
UBA52P7,RN7SL865P,RNU6-1188P,MIR620,SNRPGP18,MIR4472-2,LINC02457,LINC00173,RNU6-558P,MAP1LC3B2,C12orf49,HRK,LINC02463,MED13L,RNFT2,FBXW8
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004704
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-1188P,MIR620,SNRPGP18,MIR4472-2,LINC02457,LINC00173,RNU6-558P,ELOCP32,MAP1LC3B2,C12orf49,HRK,TESC-AS1,MED13L,RNFT2,FBXW8,TESC,FBXO21,NOS1
Controls
No Control Data Available
No Animal Model Data Available