1p21.3-p21.1CNV Type: Deletion
Largest CNV size: 5200000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo deletion in the 1p21.3-p21.1 region containing MIR137 was identified in a proband with ASD and intellectual disability (Tucci et al., 2016).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
MIR137 is the key gene mediator of the syndromic obesity phenotype of patients with 1p21.3 microdeletions.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
tucci_16_ASD/ID_discovery_cases
First-born child of healthy non-consanguineous parents with unremarkable family history presenting with MIR137-containing 1p21.3-p21.1 microdeletion
1
Case presents with ASD (diagnostic tools N/A), anxiety, mild intellectual disability, speech disorder/specific language impairment, obesity, and precocious puberty.
10 yrs.
Male
5200000
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
tucci_16_ASD/ID_discovery_cases-case1
10 yrs.
M
ASD and ID
Birth/neonatal history: born at 39 weeks of gestation via elective C-section; birth weight of 2800 g (10th-25th %ile); length, OFC, and Apgar scoes said to be normal; no recorded medical problems at birth; normal postnatal growth; several episodes of febrile convulsions in infancy (spontaneously resolved at age of 3 years). Developmental milestones: global psychomotor delay (first steps at 20 months, first words at 36 months). Language and communication evaluation: speech disorder, specific language impairment. Motor and musculoskeletal evaluation: fine motor skill disturbances. Behavioral/psychiatric evaluation: anxiety, ASD (diagnostic tools N/A). Brain imaging: increased CSF spaces posteriorly to the cerebellum and moderate focal increase of CSF in the anterior temporal horns and in lamina of quadrigeminal cistern observed on brain MRI. Visual evaluation: hypermetropy. Cardiac evaluation: echocardiogram showed bicuspid aortic valve with mild stenosis of the aortic root. Additional medical history: precocious puberty, advanced bone age. Growth parameters: obesity; weight of 39.3 kg (75th %ile), height of 147.2 cm (97th %ile), and BMI of 18.13 kg/m2 at 9 years; weight of 48 kg (>97th %ile), height of 154 cm (>97th %ile), and BMI of 20.6 kg/m2 at 10 years. Family history: first-born child of healthy non-consanguineous parents; family history was unremarkable for neurological disorders, behavioral problems, and congenital anomalies.
Mild intellectual disability, normal non-verbal cognitive function
97990737
103216528
5225792
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
tucci_16_ASD/ID_discovery_cases-case1
De novo
Simplex
Segregated
MIR2682,MIR137,NFU1P2,HMGB3P10,RNU4-75P,RNU6-750P,RNU6-1318P,RPL23AP90,BRI3P1,MIR553,BCAS2P2,GPR88,S1PR1,PPIAP7,RNU6-965P,RPSAP19,RNU6-352P,DNAJA1P5,SOD2P1,LINC01776,PLPPR4,PALMD,MFSD14A,SASS6,LRRC39,DBT,RTCA-AS1,LINC01349,VCAM1,EXTL2,HNRNPA1P68,DPH5,LINC01307,MIR137HG,SNX7,PLPPR5,LINC01708,FRRS1,AGL,SLC35A3,TRMT13,RTCA,CDC14A,SLC30A7,OLFM3,COL11A1,DPYD,LINC01709
Controls
No Control Data Available
No Animal Model Data Available