8q21.3-q22.1CNV Type: Deletion
Largest CNV size: 5180000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Deletions within this region were identified in four cases (three with developmental delay/intellectual disability, one with developmental delay and autistic features) from two recent reports (Kaminsky et al., 2011; Debost-Legrand et al., 2012).
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
A new case of 8q22.1 microdeletion restricts the critical region for Nablus mask-like facial syndrome.
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
debost-legrand_12_DD/ASD_discovery_cases
First child of healthy consanguineous parents presenting with global developmental delay, autism, and microcephaly
1
Global developmental delay, autistic features, and microcephaly
4 yrs.
Male
5180000
1
0
1
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
3597347
3
0
3
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
debost-legrand_12_DD/ASD_discovery_cases
France
aCGH
Agilent 105K
ADM-2
Agilent DNA Analytics 4.0.76
FISH
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
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
debost-legrand_12_DD/ASD_discovery_cases-case1
4 yrs.
M
Developmental delay and autistic features
Birth/neonatal history: unremarkable pregnancy, born at term; no feeding difficulties, but presented with sleeping difficulties; premature fusion of anterior fontanel without craniosynostosis noted at 8 months of age. Developmental milestones: global developmental delay established at age of 21 months with significant speech delay (unable to speak at 3 years of age). Language and communication evaluation: significant speech delay (unable to speak at age of 3 years). Motor and musculoskeletal evaluation: joint laxity of fingers. Behavioral/psychiatric evaluation: some autistic traits and stereotypies (no evidence of formal ASD evaluation). Brain imaging: moderate hypomyelinization of frontal lobes. Dysmorphic features: microcephaly, occipital plagiocephaly, moderate hypertelorism with right epicanthal fold, small bulbous nose with antevertade nostrils, everted lower lip vermillion, coarse features, two "cafe au lait spots" on left leg and left ankle, bilateral ectopic testes. Growth parameters (at age of 3 years): weight of 13.2 kg (+0.5 SD), height of 85 cm (-0.5 SD), head circumference of 46 cm (-2.5 SD). Family history: first child of healthy nonconsanguineous couple.
Global developmental delay
88032730
93214603
5181874
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001644
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
92287062
95786443
3499382
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002084
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
92283179
95786443
3503265
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004796
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
90940996
94538343
3597348
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
debost-legrand_12_DD/ASD_discovery_cases-case1
FISH
De novo
Simplex
Likely segregated
RNA5SP272,KRT8P4,COX6B1P6,RNU6-925P,RNA5SP273,MIR4661,RN7SKP231,PRR13P7,MRPS16P1,IRF5P1,MIR8084,RPSAP74,NBN,CALB1,LINC01030,PIP4P2,OTUD6B-AS1,OTUD6B,LRRC69,C8orf87,RIPK2,OSGIN2,DECR1,LINC00534,TMEM64,NECAB1,C8orf88,RUNX1T1,FLJ46284,TRIQK,MMP16,SLC26A7,LINC00535
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001644
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
IRF5P1,MIR8084,RNA5SP274,ZNF317P1,RBM12B-AS1,MYL12AP1,MIR378D2,PSMA2P2,RPL34P18,RPS4XP10,RNU6-1209P,MIR3150BHG,MIR3150B,MIR3150A,RNU6-690P,C8orf87,RBM12B,TMEM67,PDP1,CDH17,GEM,RAD54B,FSBP,ESRP1,INTS8,TP53INP1,PLEKHF2,LINC01298,C8orf37,FLJ46284,TRIQK,FAM92A,VIRMA,DPY19L4,CCNE2,NDUFAF6,LINC00535,C8orf37-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002084
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Maternal
Unknown
Unknown
IRF5P1,MIR8084,RNA5SP274,ZNF317P1,RBM12B-AS1,MYL12AP1,MIR378D2,PSMA2P2,RPL34P18,RPS4XP10,RNU6-1209P,MIR3150BHG,MIR3150B,MIR3150A,RNU6-690P,C8orf87,RBM12B,TMEM67,PDP1,CDH17,GEM,RAD54B,FSBP,ESRP1,INTS8,TP53INP1,PLEKHF2,LINC01298,C8orf37,FLJ46284,TRIQK,FAM92A,VIRMA,DPY19L4,CCNE2,NDUFAF6,LINC00535,C8orf37-AS1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004796
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR4661,RN7SKP231,PRR13P7,MRPS16P1,IRF5P1,MIR8084,RNA5SP274,ZNF317P1,RBM12B-AS1,MYL12AP1,MIR378D2,PSMA2P2,RPL34P18,RPS4XP10,PIP4P2,OTUD6B-AS1,OTUD6B,LRRC69,C8orf87,RBM12B,TMEM67,PDP1,CDH17,GEM,RAD54B,FSBP,NECAB1,C8orf88,RUNX1T1,FLJ46284,TRIQK,FAM92A,VIRMA,SLC26A7,LINC00535
Controls
No Control Data Available
No Animal Model Data Available