12p13.1-p12.3CNV Type: Deletion
Largest CNV size: 4100000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Large de novo deletions within this region affecting at least part of the GRIN2B gene were identified in two unrelated patients presenting with intellectual disability and other phenotypes (DiMassi et al., 2013).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Interstitial 12p13.1 deletion involving GRIN2B in three patients with intellectual disability.
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
dimassi_13_ID/DD_discovery_cases
Three patients presenting similar phenotypes with overlapping interstitial 12p13.1 microdeletions encompassing all or part of the GRIN2B gene
3
2 cases with intellectual disability, 1 case with developmental delay and autistic features; all 3 cases also presented with delayed language acquisition and mild facial dysmorphism.
Range, 3-24 yrs.
66.67% Male
4100000
2
0
2
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
dimassi_13_ID/DD_discovery_cases-case1
12 yrs.
F
Intellectual disability
Birth/neonatal history: born at 40 weeks gestation after uneventful pregnancy; normal birth parameters (weight -1 SD, length -2.5 SD, OFC -0.5 SD); sleeping and feeding problems presented during first few months. Developmental milestones: moderate psychomotor delay (sitting at age of 8 months, walking at 20 months); major delay in speech acquisition. Language and communication evaluation: major delay of speech acquistion (only a few short sentences). Behavioral/psychiatric evaluation: social abilities and autonomy were unaffected. Epilepsy/seizures: referred at age of 12 years due to a single, partial, complex seizures episode with hypertonia of the left. Brain imaging: normal brain MRI. Other features: repeated otitis requiring placement of pressent equalization tubes and tympanic transplanation. Dysmorphic features: oval-shaped face, arched eyebrows, almond-shaped lower lip, broad chin, sacro-coccygeal dimple. Growth parameters: normal; weight -2 SD, height -1 SD, OFC median. Family history: three child of non-consanguineous parents.
Moderate intellectual disability
12963393
17098720
4135328
GRCh38
Deletion
Yes
dimassi_13_ID/DD_discovery_cases-case2
24 yrs.
M
Intellectual disability
Birth/neonatal history: born at term after uncomplicated pregnancy; small for gestational age (weight -2 SD, length -2.5 SD, OFC -3 SD). Developmental milestones: first walking at 23 months; pronounced first words at 3 years; difficulties with fine motor skills. Language and communication evaluation: major delay in speech acquisition, saying only isolated words; non-verbal communication unaffected. Behavioral/psychiatric evaluation: social abilities and autonomy were unaffected. Dysmorphic features: oval-shaped face, arched eyebrows, almond-shaped palpebral fissures, long philtrum, everted vermillion of lower lip, broad chin, small toenails. Growth parameters: normal; weight +1.5 SD, height -1 SD, OFC median. Family history: second child of non-consanguineous parents.
Intellectual disability; global IQ of 46; presented visual-constructive difficulties and was incapable of logical reasoning
13979905
16632771
2652867
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
dimassi_13_ID/DD_discovery_cases-case1
FISH, qPCR
De novo
Simplex (based on family history provided in report)
Likely segregated
HTR7P1,RNA5SP353,RNU6-590P,RN7SKP162,MRPS18CP4,RNU6-491P,GNAI2P1,RPL30P11,RN7SKP134,HIST4H4,H2AFJ,MGP,LINC01489,RERG-IT1,METTL8P1,RNU6-251P,EGLN3P1,EEF1A1P16,RNU6-837P,GSG1,EMP1,LINC01559,PLBD1-AS1,WBP11,ART4,ERP27,PDE6H,RERG-AS1,STRAP,SUPT16HP1,LMO3,GPRC5D-AS1,HEBP1,FAM234B,ATF7IP,PLBD1,C12orf60,SMCO3,ARHGDIB,RERG,PTPRO,DERA,SLC15A5,MGST1,GRIN2B,GUCY2C,EPS8
dimassi_13_ID/DD_discovery_cases-case2
FISH, qPCR
De novo
Simplex (based on family history provided in report)
Likely segregated
MRPS18CP4,RNU6-491P,GNAI2P1,RPL30P11,RN7SKP134,HIST4H4,H2AFJ,MGP,LINC01489,RERG-IT1,METTL8P1,RNU6-251P,EGLN3P1,PLBD1-AS1,WBP11,ART4,ERP27,PDE6H,RERG-AS1,STRAP,SUPT16HP1,LMO3,ATF7IP,PLBD1,C12orf60,SMCO3,ARHGDIB,RERG,PTPRO,DERA,SLC15A5,MGST1,GRIN2B,GUCY2C,EPS8
Controls
No Control Data Available
No Animal Model Data Available