7q21.11-q21.3CNV Type: Duplication
Largest CNV size: 18681100 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A complex chromosome 7q rearrangement identified in a patient with mental retardation, anxiety disorder, and autistic features.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
dauwerse_10_MR_discovery_cases
Affected female, born to healthy parents, with complex chromosome 7q rearrangement
1
Moderate mental retardation, anxiety disorder, and autistic features (due to emotional state, common autism behavior tests such as Pre-Linguistic ADOS/PL-ADOS, ADI-R, and CARS could not be performed)
14 yrs.
Female
10000000
1
0
1
ghasemi_22_ASD_discovery_cases
Iranian patients with syndromic ASD from Imam Hossein Hospital.
36
Diagnosis of ASD in cases confirmed by the diagnostic criteria of ASD based on the Diagnostic and Statistical Manual of Mental Disorders (DSM-5).
Range, 3-17 yrs.
83.33% Male
9298971
1
0
1
wang_10_ASD_discovery_cases
ASD patients recruited from Centers for Autism in Zagreb, Rijeka, and Split (Croatia)
103
ASD (according to DSM-IV criteria)
Mean, 21.5 10.3
78.6% Male
18681100
0
1
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
wang_10_ASD_discovery_controls
Healthy blood donors with no history of mental illness, behavioral disorders, or substance abuse
203
Controls
Mean, 32.5 8.06
71.9% Male
18681100
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
dauwerse_10_MR_discovery_cases
Netherlands
Array SNP
Affymetrix GeneChip Human Mapping 262K NspI array
CNAG version 2.0
FISH
ghasemi_22_ASD_discovery_cases
Iran
aCGH
SurePrint G3 ISCA V2 8X60K
NA
NA
None
wang_10_ASD_discovery_cases
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
wang_10_ASD_discovery_controls
Croatian
Solid phase hybridization
Illumina HumanHap550 BeadChip
PennCNV
BeadStudio
None
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
dauwerse_10_MR_discovery_cases-case1
14 yrs.
F
Mental retardation + autistic features
Autistic features: ritualized and repetitive behavior, periods of extreme stillness; case could not be tested within common autism behavior tests (ADI-R, CARS, Pre-Linguistic ADOS/PL-ADOS) due to emotional state. Birth/neonatal history: pregnancy complicated by vaginal bleeding & amnion leakage; brecch delivery at 42 weeks; amniotic fluid mecomium stained; Apgar score of 10 after 1 min, no signs of asphyxia; feeding problems during 1st weeks of life requiring 1 week hospitalization. Developmental milestones: adequate development and normal neurological exam at 11 weeks; speech delay. Langauge and communication evaluation: delayed speech. Motor and musculoskeletal evaluation: coordination disorder with jerky movements, hypotonia, scoliosis; treated with splints for hip dysplasia at 11 weeks. Behavioral/psychiatric evaluation: severe anxiety disorder; more precisely described as disturbance in anxiety regulation, with introverted, still, fearfull and panicky behavior outdoors, and intense grief and anger indoors. EEG: abnormally slow background with frequent spikes and spike and wave complexes, esp. in occipital region without clinical epileptic seizures. Dysmorphic features: tented mouth, high palate, low-set ears, simple formed left lop ear, dysplastic right eat, small palprebal fissures, proximally implanted thumbs, bilateral single palmar creases, sacral dimple, long halluxes of feet. Growth parameters (at 10.5 years): height, -1 SD; head circumference, -2.5 SD. Family history: healthy parents, healthy half-sister. Karyotype: complex chromosomal rearrangement with intra-chromosomal insertion of 7q31.31-q35 into band 7q21.3 with a deletion of 7q21.11-q21.3at the insertion site [46, XX, der(7)del(7)(q21.11q21.3)ins(7)(q21.3q31.31q35)]; breakpoint disrupts C7orf58 gene in 7q31.31 band.
Moderate mental retardation. Mean IQ of 48.
85813502
94149236
10000000
Unknown
Deletion
Yes
ghasemi_22_ASD_discovery_cases-case2
9 yrs.
F
ASD, ADHD, developmental delay, and intellectual disability
Birth/neonatal history: delivery by C-section following a normal pregnancy. Developmental milestones: speech delay. Behavioral/psychiatric evaluation: diagnosis of ASD confirmed based on DSM-5 criteria; ADHD. Epilepsy/seizures: none. EEG: normal. Brain imaging: normal brain MRI. Family history: only child of healthy and consanguineous Iranian parents.
Mild intellectual disability
84963481
94262451
9298971
GRCh38
Deletion
No
wang_10_ASD_discovery_cases-AC0015
20
M
ASD
NA
NA
78779243
98031831
19252589
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
dauwerse_10_MR_discovery_cases-case1
FISH
De novo
Simplex
Segregated
GRM3,KIAA1324L,DMTF1,C7orf23,CROT,ABCB4,ABCB1,RUNDC3B,SLC25A40,DBF4,ADAM22,SRI,STEAP4,ZNF804B,C7orf62,STEAP1,STEAP2,C7orf63,GTPBP10,CLDN12,CDK14,FZD1,MTERF,AKAP9,CYP51A1,LRRD1,KRIT1,ANKIB1,GATAD1,PEX1,RBM48,FAM133B,CDK6,SAMD9,SAMD9L,HEPACAM2,CCDC132,CALCR,TFPI2,GNGT1,GNG11,BET1,COL1A2,CASD1,SGCE,PEG10
ghasemi_22_ASD_discovery_cases-case2
De novo
Simplex
CALCR,KRIT1,CDK6,CYP51A1,STEAP1,ADAM22,ERVW-1,ANKIB1,VPS50,SAMD9,CROT,GATAD1,SLC25A40,TMEM243,CFAP69,STEAP4,RBM48,GTPBP10,ZNF804B,SAMD9L,TEX47,RUNDC3B,GNG11,GNGT1,GRM3,SEMA3D,STEAP2,FAM133B,ELAPOR2,HEPACAM2,NDUFAF4P2,HNRNPA1P8,LRRD1,MIR489,EEF1A1P28,CYP51A1-AS1,DPY19L2P4,KPNA2P2,MIR653,DYNLL1P7,NIPA2P1,MIR1285-1,HSPA8P16,TVP23CP1,SOCS5P1,HNRNPA1P9,EIF4A1P13,MIR4652,PTP4A1P3,RNU6-10P,STEAP2-AS1,CDK6-AS1,ABCB4,CDK14,ABCB1,PEX1,RN7SL7P,SRI-AS1,PTTG1IP2,LINC00972,BET1-AS1,TFPI2-DT,TMBIM7P,SLC66A2P1,SRI,RNU6-274P,FAM237B,GRM3-AS1,MTERF1,FZD1,TFPI2,DMTF1,CLDN12,AKAP9,DBF4,BET1,TP53TG1
wang_10_ASD_discovery_cases-AC0015
Unknown
NA
NA
MAGI2-AS1,MAGI2-AS2,RNU6-337P,RNU6-530P,RNA5SP234,RNU6-849P,RPL10P11,RN7SL869P,RN7SL35P,SNRPBP1,EIF4EP4,DDX43P3,MTHFD2P5,RNA5SP235,RAD23BP2,RPL7P30,HMGN2P11,HSPA8P16,DYNLL1P7,SOCS5P1,HNRNPA1P9,EIF4A1P13,KPNA2P2,PQLC1P1,EEF1A1P28,TEX47,RNU6-274P,DPY19L2P4,FAM237B,TVP23CP1,PTP4A1P3,FZD1,NIPA2P1,MIR1285-1,RNU6-10P,RN7SL7P,MIR653,MIR489,MIR4652,NDUFAF4P2,TFPI2,GNG11,RNU6-1328P,RPS3AP25,RNU6-956P,ATP5PBP2,GRPEL2P3,RN7SKP129,ARF1P1,HINT1P2,RNU4-16P,MIR591,RNU6-532P,RNU6-364P,RNU7-188P,MARK2P10,RN7SL252P,DLX5,HMGB3P21,AP1S2P1,RN7SKP104,TAC1,SNRPCP9,RPS3AP29,OR7E7P,MIR5692A1,MIR5692C2,OR7E38P,OCM2,RN7SL478P,MAGI2-AS3,NUP35P2,HGF,HNRNPA1P8,TMEM243,TP53TG1,CROT,SLC25A40,DBF4,STEAP4,STEAP1,GTPBP10,CYP51A1,KRIT1,TMBIM7P,GATAD1,ERVW-1,PEX1,FAM133B,SAMD9,SAMD9L,COL1A2,CASD1,PEG10,PON1,PON3,ASB4,PDK4,DLX6,ASNS,GNAI1,CD36,GNAT3,SEMA3C,CACNA2D1,SEMA3E,SEMA3A,SEMA3D,LINC00972,GRM3,DMTF1,ABCB4,ABCB1,RUNDC3B,SRI,CFAP69,CLDN12,CDK14,MTERF1,AKAP9,CYP51A1-AS1,LRRD1,RBM48,CDK6,HEPACAM2,CALCR,GNGT1,BET1,SGCE,PPP1R9A,DYNC1I1,SLC25A13,SEM1,DLX6-AS1,SDHAF3,MAGI2,PCLO,KIAA1324L,ADAM22,ZNF804B,STEAP2-AS1,STEAP2,VPS50,PON2,ANKIB1
Controls
No Control Data Available
No Animal Model Data Available