2q24.3-q31.1CNV Type: Deletion
Largest CNV size: 10717291 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Deletions within this region were found in three cases 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...
Deletion
Etiological yield of SNP microarrays in idiopathic 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
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
10717291
3
0
3
peycheva_18_ID/EP_discovery_cases
Patients referred by clinicians from major neurologic clinics in Bulgaria (47 cases with positive family history for developmental delay/intellectual disability and/or seizures, 45 sporadic cases)
92
Cases primarily presented with intellectual disability (99%) and epilepsy/seizures (96%), with some exhibiting behavioral abnormalities (43%), dysmorphic features (52%), delayed or absent speech (45%), microcephaly (15%), motor disorders (37%), and brain structural abnormalities (31%)
Range, 1-22 years
54.35% Male
5510000
1
0
1
utine_14_DD/ID/ASD_discovery_cases
Patients referred for genetic evaluation for developmental delay or intellectual disability, with or without accompanying dysmorphic features, single or multiple malformations, growth disorder, behavior disorder and/or autism, and family history of ID/autism (Hacettepe University, Ankara, Turkey)
100
Developmental delay (74 cases with prominent motor delay, 86 with delayed mental milestones; 67 with both) and/or intellectual disability (18 cases with mild ID, 48 with moderate ID, 34 with severe ID); 36 cases with problems in social interactions (considered as "autistic features); 30 cases with history of at least one seizures; 89 cases with brain imaging (normal in 61 cases).
Range, 2-22 yrs. (mean age, 10.8 yrs.)
75% Male
7500000
1
0
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
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
peycheva_18_ID/EP_discovery_cases
Bulgarian
aCGH
Agilent SurePrint G3 Human CGH Microarray Kit, Agilent 4x180K, Agilent SurePrint G3 Unrestricted CGH ISCA v2 4x180K
Agilent Feature Extraction v12.0.1.1, OGT Cytosure Interpret v4.3
qPCR
utine_14_DD/ID/ASD_discovery_cases
Turkey
Array SNP
Affymetrix 6.0
Affymetrix Genotyping Console v.4.0
aCGH
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001138
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
164850117
175559190
10709074
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001838
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
164066038
172097886
8031849
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005221
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
165209651
169567892
4358242
GRCh38
Deletion
Yes
peycheva_18_ID/EP_discovery_cases-case539
2 yrs.
F
ID and epilepsy
Language and communication evaluation: normal. Behavioral/psychiatric evaluation: normal. Epilepsy/seizures: refractory generalized tonic-clonic seizures. Brain imaging: dilation of the subarachnoid spaces, brain atrophy.
Mild intellectual disability
163951241
169459015
5507775
GRCh38
Deletion
Yes
utine_14_DD/ID/ASD_discovery_cases-case10
15 yrs.
F
Intellectual disability
Patient initially referred at 4 months of age due to atypical facial features. Developmental milestones: reached early developmental milestones within normal limits; walked independently at 2 years, 2-word sentences at 7 years. Language and communication evaluation: unable to read. Behavioral/psychiatric evaluation: no autism or autistic features. Epilepsy/seizures: no. Brain imaging: N/A. Other features: operations for ventricular septal defect and patent ductus arteriosus. Dymsorphic features: short neck, flat nasal bridge, microphthalmia, epicanthus invertus, hypertelorism, ptosis, long face, prominent chin, down-slanting palpebral fissures and eyebrows, broad and prominent nasal bridge, large nose, gingival hypertrophy, crowded teeth, narrow palate, low-set ears, large and fleshy halluces. Growth parameters: microcephaly at 15 years of age; height, weight, and head circumference all <3rd %ile. Family history: born to healthy consanguineous parents (first cousins once removed).
Moderate DD/ID (main area of delay/disability: language); IQ of 43, able to count up to ten and recognize letters.
N/A
N/A
7500000
Unknown
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001138
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNA5SP110,RNA5SP111,MAPRE1P3,RN7SKP152,RNU7-148P,CTAGE14P,RN7SL813P,MIR4774,RNU6-766P,CERS6-AS1,PHOSPHO2,PTCHD3P2,RNU6-1006P,HMGB1P4,LINC01124,SP5,EIF2S2P4,DAP3P2,RPL21P38,RNU6-182P,DLX1,DLX2,DLX2-DT,ITGA6-AS1,ALDH7A1P2,PPIAP66,RPL5P7,LINC01960,RPSAP24,RN7SL65P,HNRNPA1P39,LINC01305,SP9,RNU6-5P,H3F3AP4,RNU6-763P,RNU6-1290P,MIR933,SLC38A11,GALNT3,XIRP2-AS1,B3GALT1,SPC25,G6PC2,UBE2V1P6,BBS5,KLHL41,FASTKD1,CCDC173,SSB,METTL5,GAD1,GORASP2,METTL8,CYBRD1,METAP1D,PDK1,RAPGEF4-AS1,CDCA7,CIR1,SCRN3,CHRNA1,ATP5MC3,SCN3A,SCN2A,TTC21B,TTC21B-AS1,SCN1A,SCN9A,SCN7A,XIRP2,STK39,CERS6,ABCB11,DHRS9,LRP2,PPIG,KLHL23,MYO3B,ERICH2,TLK1,DCAF17,DYNC1I2,ITGA6,MAP3K20,MAP3K20-AS1,SP3,OLA1,GPR155,WIPF1,CHN1,CSRNP3,NOSTRIN,UBR3,SLC25A12,HAT1,RAPGEF4,ATF2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001838
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
PRPS1P1,CYP2C56P,SNORA70F,RNA5SP110,RNA5SP111,MAPRE1P3,RN7SKP152,RNU7-148P,CTAGE14P,RN7SL813P,MIR4774,RNU6-766P,CERS6-AS1,PHOSPHO2,PTCHD3P2,RNU6-1006P,HMGB1P4,LINC01124,SP5,EIF2S2P4,DAP3P2,RPL21P38,RNU6-182P,DLX1,SLC38A11,GALNT3,XIRP2-AS1,B3GALT1,SPC25,G6PC2,UBE2V1P6,BBS5,KLHL41,FASTKD1,CCDC173,SSB,METTL5,GAD1,GORASP2,METTL8,CYBRD1,METAP1D,GRB14,COBLL1,SCN3A,SCN2A,TTC21B,TTC21B-AS1,SCN1A,SCN9A,SCN7A,XIRP2,STK39,CERS6,ABCB11,DHRS9,LRP2,PPIG,KLHL23,MYO3B,ERICH2,TLK1,DCAF17,DYNC1I2,CSRNP3,NOSTRIN,UBR3,SLC25A12,HAT1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005221
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MAPRE1P3,RN7SKP152,RNU7-148P,CTAGE14P,RN7SL813P,MIR4774,RNU6-766P,CERS6-AS1,GALNT3,XIRP2-AS1,B3GALT1,SPC25,G6PC2,UBE2V1P6,BBS5,KLHL41,FASTKD1,SCN2A,TTC21B,TTC21B-AS1,SCN1A,SCN9A,SCN7A,XIRP2,STK39,CERS6,ABCB11,DHRS9,LRP2,CSRNP3,NOSTRIN
peycheva_18_ID/EP_discovery_cases-case539
qPCR
De novo
PRPS1P1,CYP2C56P,SNORA70F,RNA5SP110,RNA5SP111,MAPRE1P3,RN7SKP152,RNU7-148P,CTAGE14P,RN7SL813P,MIR4774,RNU6-766P,CERS6-AS1,SLC38A11,GALNT3,XIRP2-AS1,B3GALT1,SPC25,G6PC2,UBE2V1P6,GRB14,COBLL1,SCN3A,SCN2A,TTC21B,TTC21B-AS1,SCN1A,SCN9A,SCN7A,XIRP2,STK39,CERS6,ABCB11,DHRS9,LRP2,CSRNP3,NOSTRIN
utine_14_DD/ID/ASD_discovery_cases-case10
aCGH
De novo
Unknown
Possibly segregated
Multiple genes
Controls
No Control Data Available
No Animal Model Data Available