15q26.2-q26.3CNV Type: Deletion-Duplication
Largest CNV size: 7823755 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
CNVs within this region were found in five 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-Duplication
Variable behavioural phenotypes of patients with monosomies of 15q26 and a review of 16 cases.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Prospective diagnostic analysis of copy number variants using SNP microarrays in individuals with autism spectrum disorders.
Deletion
Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Deletion
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
7823755
4
1
5
nava_13_ASD_discovery_cases
Subjects recruited in the Centre de Reference deficiences intellectuelles de causes rares', the 'Centre Diagnostic Autisme', Pitie-Salpetriere Hospital (Paris, France) or the Fondation Lejeune over a period of 3 years (20092011).
194
Cases assessed with ADI-R
N/A
83.5% Male
225000
1
0
1
poot_13_ASD_discovery_cases
Follow-up report of female patient originally described in 2007 (Poot et al., Eur. J. Med. Genet.) with growth retardation and slight behavioral abnormalities
1
Diagnosis of autism on axis I (score 299) and intellectual impairment on axis II (score 319) according to DSM-IV criteria
14 yrs.
Female
6870000
1
0
1
sansovic_17_DD/ID/ASD_discovery_cases
Unrelated patients from Croatia referred to the Department of Medical Genetics and Reproductive Health, Children's Hospital Zagreb, University of Zagreb School of Medicine
337
Cases diagnosed by clinical geneticists or pediatricians to have developmental delay/intellectual disability (DD/ID), ASD, congenital anomalies, or a combination of those features
Mean, 7 years (range, 1 month-25 years)
N/A
5514000
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
nava_13_ASD_discovery_cases
France
Solid phase hybridization
Illumina cytoSNP-12, Illumina 660W-Quad, Illumina 370CNV-Quad
GenomeStudio v.2011.1, CNVPartition v.3.1.6
None
poot_13_ASD_discovery_cases
Netherlands
Solid phase hybridization
Illumina Infinium HumanHap300 BeadChip
FISH
sansovic_17_DD/ID/ASD_discovery_cases
Croatia
aCGH
Agilent SurePrint G3 Unrestricted CGH ISCA v2
Agilent Feature Extraction (v12.0), Agilent CytoGenomics (v3.0 and v4.0)
None
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-ISCA00000851
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
94033008
101843270
7810263
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002188
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
96069425
101849578
5780154
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002201
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
96329791
101849578
5519788
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004057
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
97735430
101810992
4075563
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004848
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
96913979
101843411
4929433
GRCh38
Deletion
Yes
nava_13_ASD_discovery_cases-Fam973Proband9554
N/A
M
ASD
Additional clinical profile info N/A
ID
97893660
98101993
208334
GRCh38
Deletion
No
poot_13_ASD_discovery_cases-case1
14 yrs.
F
ASD and ID
Diagnosis of autism on axis I (score 299) according to DSM-IV criteria at age of 10.5 years. Birth/neonatal history: intrauterine growth retardation; birth weight -2 SD, birth length <-2 SD, birth OFC -2 SD. Developmental milestones: development with normal range up to age of 8 years. Motor and musculoskeletal evaluation: pes plano valgus, shorter left leg, restricted supination capacity in both elbows, 5th finger bilateral clinodactyly. Behavioral/psychiatric evaluation: slight behavioral abnormalities in original report (no neurological abnormalities detected); at age of 10.5 years, case showed uninhibited, compulsive and often socially inadequate behavior and tended to talk loudly; frequently seeked contact that often appeared not to be reciprocal; preference for tactile stimuli. Cardiac evaluation: open oval window, ventricular septal defect type II, valvular stenosis of the pulmonary artery. Dysmorphic features: asymmetric face and eye fissures, broad nasal tip, abnormal thumb implant; original report described micrognathia, long eyelashes, low nasal bridge and oculocutaneous albinism. Growth parameters: severe growth retardation at age of 8 years (length -4.5 SD, weight for height -4 SD, OFC -3 SD) prompted growth hormone treatment; re-evaluation of growth parameters at age of 14 years showed weight of 39.7 (+1.4 SD), height of 142 cm (-3.27 SD), and OFC of 56.2 cm (+1 SD).
Diagnosis of intellectual impairment on axis II (score 319) according to DSM-IV crtieria at age of 10.5 years. First psychological evaluation at age of 5 years revealed IQ of 82 (on SON-R, a non-verbal IQ test); re-evaluation of IQ as part of psychiatric diagnostic work-up showed IQ between 58-71 (90th %ile), with verbal IQ between 69-82 (90th %ile) and performance IQ between 53-70 (90th %ile).
N/A
N/A
6870000
GRCh37
Deletion
Yes
sansovic_17_DD/ID/ASD_discovery_cases-case58
7 yrs.
F
Developmental delay/intellectual disability
Developmental delay/intellectual disability, Congenital anomalies
96326161
101843270
5517110
GRCh38
Deletion
No
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-ISCA00000851
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU2-3P,LINC02157,MIR1469,PGAM1P12,RN7SKP254,FAM149B1P1,SPATA8,RN7SKP181,RNA5SP401,ARRDC4,RNU6-1186P,LINC02351,IRAIN,MIR4714,LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,SPATA8-AS1,RN7SL677P,LINC01582,FAM169B,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,LINC01579,LINC01581,LINC01197,NR2F2-AS1,NR2F2,LINC02253,LINC00923,LINC02251,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,MCTP2,LINC00924,LINC02254,MEF2A,TARSL2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002188
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
LINC02157,MIR1469,PGAM1P12,RN7SKP254,FAM149B1P1,SPATA8,RN7SKP181,RNA5SP401,ARRDC4,RNU6-1186P,LINC02351,IRAIN,MIR4714,LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,SPATA8-AS1,RN7SL677P,LINC01582,FAM169B,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,NR2F2-AS1,NR2F2,LINC02253,LINC00923,LINC02251,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,LINC02254,MEF2A,TARSL2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002201
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
MIR1469,PGAM1P12,RN7SKP254,FAM149B1P1,SPATA8,RN7SKP181,RNA5SP401,ARRDC4,RNU6-1186P,LINC02351,IRAIN,MIR4714,LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,SPATA8-AS1,RN7SL677P,LINC01582,FAM169B,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,NR2F2,LINC02253,LINC00923,LINC02251,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,LINC02254,MEF2A,TARSL2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004057
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
ARRDC4,RNU6-1186P,LINC02351,IRAIN,MIR4714,LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,LINC01582,FAM169B,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,LINC00923,LINC02251,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,MEF2A,TARSL2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004848
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNA5SP401,ARRDC4,RNU6-1186P,LINC02351,IRAIN,MIR4714,LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,RN7SL677P,LINC01582,FAM169B,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,LINC02253,LINC00923,LINC02251,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,LINC02254,MEF2A,TARSL2
nava_13_ASD_discovery_cases-Fam973Proband9554
Paternal
Simplex
Unknown
ARRDC4,RNU6-1186P,LINC01582,LINC02251
poot_13_ASD_discovery_cases-case1
FISH
De novo
NR2F2,SPATA8,ARRDC4,FAM169B,IGF1R,PGPEP1L,SYNM,TTC23,LRRC28,MEF2A,LYSMD4,ADAMTS17,CERS3,LINS,ASB7,ALDH1A3,LRRK1,CHSY1,VIMP,SNRPA1,PCSK6,TM2D3,TARSL2
sansovic_17_DD/ID/ASD_discovery_cases-case58
Unknown
MIR1469,PGAM1P12,RN7SKP254,FAM149B1P1,SPATA8,RN7SKP181,RNA5SP401,ARRDC4,RNU6-1186P,LINC02351,IRAIN,MIR4714,LUNAR1,HSP90B2P,HNRNPA1P62,LINC02244,RPL7P5,RN7SL484P,RNA5SP402,SPATA41,RNU6-322P,PRKXP1,RNU6-181P,SELENOS,SNRPCP18,LINC02348,RNU6-807P,RN7SL209P,OR4F6,OR4F15,OR4F14P,SPATA8-AS1,RN7SL677P,LINC01582,FAM169B,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,NR2F2-AS1,NR2F2,LINC02253,LINC00923,LINC02251,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,LINC02254,MEF2A,TARSL2
Controls
No Control Data Available
No Animal Model Data Available