2q21.1-q21.2CNV Type: Deletion
Largest CNV size: 29201 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Small rare recurrent deletions and reciprocal duplications in 2q21.1, including brain-specific ARHGEF4 and GPR148.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
29201
1
0
1
dharmadhikari_12_ASD/DD/ID_discovery_cases
Unrelated individuals referred for clinical chromosomal microarray testing to the Medical Genetics Laboratories (MGL) at Baylor College of Medicine (BCM)
17035
Diagnosis of case cohort: developmental delay/intellectual disability (DD/ID), ~28.0%; ASD, ~9.2%; epilepsy, ~5.5%; ADHD, ~2.5%. 17.0% of cases with no indications.
NA
NA
1152208
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
None
dharmadhikari_12_ASD/DD/ID_discovery_cases
NA
aCGH
CMA V8.0 and V8.1 OLIGO 180K microarrays
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
celestino-soper_11_ASD_discovery_cases-11554
NA
M
ASD
NA
NA
131722421
131751622
29202
GRCh38
Deletion
No
dharmadhikari_12_ASD/DD/ID_discovery_cases-patient5
3 yrs.
M
Developmental delay
Birth/neonatal history: gestational history of poor fetal movement; delivered by C-section with normal birth weight and normal Apgars; neonatal history characterized by temperature instability, feeding difficulties (G-tube), and jaundice; acute encephalopathy and recurrent tonic and tonic-clonic seizures at 3 weeks. Developmental milestones: cannot roll-over or sit; taking nothing by mouth (all nutrition through G-tube). Language and communication evaluation: nonverbal, does not follow objects when they are presented. Motor and musculoskeletal evaluation: axial hypotonia with mild distal spasticity; reflexes show hypertonia. Epilepsy/seizures: intractile recurrent epilepsy; recurrent tonic and tonic-clonic seizures starting at 3 weeks; subsequently developed refractory flexor infantile spasms; currently on ketogenic diet and Zonisamide. Brain imaging: bilateral symmetric posterior occipital cystic encephalomalacia with cortical laminar necrosis and cerebral atrophy consistent with hypoxic ischemia on brain MRI; global decrease in NAA noted on MRI SPECT. Vision: cortical blindness. Growth parameters: microcephaly (OFC -6 SD); height and weight, 50th %iles.
Profound developmental delay
130730247
131882455
1152209
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
celestino-soper_11_ASD_discovery_cases-11554
Unknown
Simplex
NA
C2orf27A
dharmadhikari_12_ASD/DD/ID_discovery_cases-patient5
FISH
Maternal
GPR148,CYCSP8,NEK2P4,NF1P8,MED15P8,RNU6-127P,KLF2P4,ARHGAP42P1,RAB6D,MTCYBP10,MTND6P10,MTND5P23,MTND4P21,MTND3P18,MTCO3P18,MTATP6P4,MTCO2P18,MTND2P18,MTND1P26,MED15P3,LINC01120,GNAQP1,NOC2LP2,RHOQP2,MIR4784,MED15P4,RNU6-617P,GRAMD4P8,C2orf27B,AMER3,POTEE,FAR2P4,MTCO1P18,TUBA3D,CCDC74A,LINC01087,ARHGEF4,PLEKHB2,MZT2A,POTEKP,C2orf27A,FAM168B
Controls
No Control Data Available
No Animal Model Data Available