18p11.31-p11.22CNV Type: Deletion
Largest CNV size: 2913686 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Rare singleton deletion within this region was found in a case 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
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
Deletion
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
2913686
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
1800000
0
1
1
tabet_15_ASD_discovery_cases
ASD cases carrying apparently balanced chromosomal abnormalities: 12 from the Paris Autism Research International Study (PARIS) family dataset, 6 referred by network of French cytogeneticists
18
All cases diagnosed with ASD: 16 cases fulfilled DSM-IV criteria for autistic disorder, 2 cases with previous diagnosis of ASD but that could not be formally evaluated for ASD in this study. DISCO-10, ADI-R, and/or ADOS used to evaluate patients.
Range, 4-30 years
77.78% Male
4216754
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
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
tabet_15_ASD_discovery_cases
France
Solid phase hybridization
Illumina Human CNV370-Duo BeadChip
Illumina CNV Partition (v1.3.2 or v2.4.4)
Illumina Bead Studio v3.2
qPCR
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-ISCA00002066
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
7154668
10068356
2913689
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case_unknown68
N/A
N/A
NDD/MCA/dysmorphic features
CNV was identified in an individual with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features (detailed clinical information was not available). CNV classified as variant of unknown significance-likely benign (VOUS-LB)
6915115
8682644
1767530
GRCh38
Duplication
No
tabet_15_ASD_discovery_cases-case2
5 yrs.
M
Autism
Diagnosis of autism (ADI-R). Initital karyotype: 46,XY,t(5;18)(q12;p11.2)dn. Langauge: first words at 36 months, no sentences. Birth and early development: born at 38 weeks, birth weight 0.6 SD, birth height -1 SD, birth OFC mean; walked at 17 months. Body measures: weight -1 SD, height +1 SD, and OFC -0.4 SD at 5 years. Dysmorphic features: no dysmorphic features, slender habitus, long fingers and toes, numerous secondary palmar creases. Other: frequent otitis, eczema. Brain MRI: small bilateral insular hypersignal suggesting myelination delay at years. Family history: second child of healthy non-consanguineous parents.
Developmental quotient of 52 (PEP-R, 40 months)
5408998
9625752
4216755
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002066
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,KRT18P8,ZNF415P1,RNA5SP449,PIGPP4,TXNDC2,RNA5SP450,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,VAPA,MTCL1,ANKRD12,PPP4R1,RAB31,RN7SL862P,PTPRM
maini_18_ASD/DD/ID_discovery_cases-case_unknown68
Maternal
Unknown
Unknown
LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,THEMIS3P,RAB12,ARHGAP28,LAMA1,PTPRM
tabet_15_ASD_discovery_cases-case2
qPCR
De novo
Simplex
Segregated
MIR3976,TMEM200C,RNU5F-3P,MIR4317,RNU6-349P,RPL6P27,RN7SL282P,LINC00668,SCML2P1,RNU6-916P,SLC25A51P2,LRRC30,RFWD2P1,RN7SL50P,AKR1B1P6,TOMM20P3,RPS4XP19,RNU2-27P,RNU6-903P,L3MBTL4-AS1,THEMIS3P,RAB12,GACAT2,NDUFV2,NDUFV2-AS1,TWSG1,RALBP1,PPP4R1-AS1,EPB41L3,MIR3976HG,LINC01387,ARHGAP28,LAMA1,MTCL1,ANKRD12,PPP4R1,L3MBTL4,PTPRM
Controls
No Control Data Available
No Animal Model Data Available