15q26.1-q26.3CNV Type: Duplication
Largest CNV size: 12313212 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Rare singleton duplication 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...
Duplication
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
benbouchta_21_DD/ID_discovery_cases
Individual born to healthy consanguineous parents carrying a de novo 15q26.1-q26.3 deletion affecting the CHD2 gene.
1
Case presented with developmental delay (DD) and intellectual disability (ID).
4 yrs.
Female
9156914
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
12313212
0
1
1
streata_22_ASD/DD/ID_discovery_cases
Patients evaluated for global developmental delay and/or intellectual disability in pediatric, child neurology, or medical genetics departments throughout Romania who were referred to the Regional Centre for Medical Genetics for genetic testing between 2015 and 2022.
371
All cases presented with global developmental delay (DD) and/or intellectual disability (ID); a subset of cases also presented with autism spectrum disorder (ASD).
Range, 6 mos.-40 yrs. (median age, 5.5 yrs.)
63.07% Male
10331121
0
1
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
benbouchta_21_DD/ID_discovery_cases
Morocco
Array SNP
Affymetrix CytoScan HD
NA
NA
None
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
streata_22_ASD/DD/ID_discovery_cases
Romania
aCGH
Agilent SurePrint G3 ISCA v.2 8x60K, Agilent 4x180K, OGT CytoSure ISCA v.2 8x60K
NA
Agilent CytoGenomics, OGT CytoSure Interpret
CMA, karyotyping, and/or MLPA
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
benbouchta_21_DD/ID_discovery_cases-case1
4 yrs.
F
Developmental delay and intellectual disability
Birth/neonatal history: delivery by C-section due to intrauterine growth retardation associated with oligoamnios; small for gestational age (birth weight 950 g, <3rd %ile). Developmental milestones: developmental delay. Motor and musculoskeletal evaluation: clinodactyly of the fifth finger, right foot varus equine, left club foot, biphalangeal fifth finger, widely-spaced toes, dorsal scoliosis, delayed bone age. Additional medical history: failure to thrive, teething delay, divergent strabismus, two atrial septal defects with left-to-right shunt, sensorineural hearing loss. Dysmorphic features: microcephaly, broad forehead, hypertelorism, narrow eyelid slits, low-set ears, protruding columella, short neck. Growth parameters: weight 8 kg (<3rd %ile), height 81 cm (<3rd %ile), head circumference 43 cm (<3rd %ile). Family history: only child of healthy consanguineous parents with no family history of health problems or miscarriages.
Intellectual disability
92731997
101888910
9156914
GRCh38
Deletion
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001674
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
89679237
101978958
12299722
GRCh38
Duplication
Yes
streata_22_ASD/DD/ID_discovery_cases-case118
NA
F
Developmental delay and intellectual disability
Global developmental delay.
Mild/moderate intellectual disability
91512150
101843270
10331121
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
benbouchta_21_DD/ID_discovery_cases-case1
De novo
ALDH1A3,CHD2,RNU2-3P,LINS1,MCTP2,RGMA,SELENOS,LRRK1,TTC23,TM2D3,ARRDC4,LINC00923,LRRC28,TARS3,PGPEP1L,LYSMD4,ASB7,SPATA8,LINC00924,CERS3,DNM1P46,ADAMTS17,IGF1R,LINC01579,FAM169B,SPATA41,FAM149B1P1,OR4F6,OR4F15,LETR1,OR4F13P,FAM174B,OR4F14P,OR4F28P,PGAM1P12,GOLGA8VP,PRKXP1,NR2F2-AS1,H2AZ2P1,ASB9P1,RPL7P5,YBX2P2,MEF2A,PCSK6,DNM1P47,SNRPCP18,TUBAP12,MIR1469,SEPHS1P2,MIR3175,CHASERR,SPATA8-AS1,RNA5SP402,MIR4714,RNA5SP401,LINC02207,LINC01581,LINC01580,LINC02254,ALDH1A3-AS1,LINC02348,LINC01582,CERS3-AS1,LUNAR1,IRAIN,GCAWKR,LINC02244,LINC02251,PCSK6-AS1,LINC02852,LINC02351,SYNM-AS1,RN7SL484P,RN7SKP181,SNRPA1,NR2F2,HSP90B2P,RN7SL677P,RNU6-1186P,RNU6-807P,HNRNPA1P62,RN7SL209P,WBP1LP5,RNU6-181P,RN7SKP254,RNU6-322P,LINC02253,LINC02157,H3P40,SNRPA1-DT,CHSY1,SYNM
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001674
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RPL36AP43,RNU6-132P,MESP1,MRPL15P1,MIR5094,MIR5009,RNU6-1111P,RNU7-111P,MIR3174,RN7SL346P,RPS12P26,CIB1,RN7SL736P,GABARAPL3,NDUFA3P4,HSPE1P3,LINC01585,RN7SL363P,FES,RCCD1,DUXAP6,NPM1P5,HMGN1P38,ASB9P1,MIR3175,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,OR4F28P,WBP1LP5,OR4F4,OR4G2P,OR4G6P,FAM138E,MIR1302-10,MIR6859-3,DDX11L9,PLIN1,PEX11A,WDR93,MESP2,ANPEP,AP3S2,ARPIN,ZNF710-AS1,IDH2,IDH2-DT,GDPGP1,TTLL13P,NGRN,GOLGA2P8,ZNF774,BLM,FURIN,MAN2A2,HDDC3,UNC45A,PRC1,PRC1-AS1,VPS33B,VPS33B-DT,ENO1P2,C15orf32,LINC00930,H2AFVP1,LINC01578,LINC02207,SPATA8-AS1,RN7SL677P,LINC01582,FAM169B,PGPEP1L,SYNM,LYSMD4,DNM1P46,LINS1,ASB7,ALDH1A3,SNRPA1,PCSK6-AS1,TM2D3,DNM1P47,GOLGA8VP,ZNF710,IQGAP1,CRTC3,CRTC3-AS1,CRAT37,SLCO3A1,ST8SIA2,FAM174B,CHD2,RGMA,LINC01579,LINC01580,LINC01581,LINC01197,NR2F2-AS1,NR2F2,LINC02253,LINC00923,LINC02251,IGF1R,TTC23,LRRC28,ADAMTS17,CERS3-AS1,CERS3,LRRK1,CHSY1,PCSK6,OR4F13P,WASH3P,SEMA4B,SV2B,MCTP2,LINC00924,LINC02254,MEF2A,TARSL2
streata_22_ASD/DD/ID_discovery_cases-case118
CMA, karyotyping, and/or MLPA
De novo
ALDH1A3,CHD2,RNU2-3P,SLCO3A1,LINS1,MCTP2,RGMA,SELENOS,LRRK1,TTC23,TM2D3,ARRDC4,LINC00923,LRRC28,TARS3,PGPEP1L,LYSMD4,ASB7,SPATA8,C15orf32,LINC00924,CERS3,DNM1P46,ADAMTS17,IGF1R,LINC01579,FAM169B,SPATA41,FAM149B1P1,OR4F6,OR4F15,LETR1,OR4F13P,FAM174B,OR4F14P,PGAM1P12,GOLGA8VP,PRKXP1,DUXAP6,HMGN1P38,NR2F2-AS1,H2AZ2P1,ASB9P1,RPL7P5,YBX2P2,MEF2A,NPM1P5,PCSK6,LINC00930,DNM1P47,SNRPCP18,TUBAP12,ENO1P2,MIR1469,SEPHS1P2,THRAP3P2,MIR3175,CHASERR,SPATA8-AS1,RNA5SP402,MIR4714,RNA5SP401,LINC02207,LINC01581,LINC01580,LINC02254,ALDH1A3-AS1,LINC02348,LINC01582,CERS3-AS1,LUNAR1,IRAIN,GCAWKR,LINC02244,LINC02251,PCSK6-AS1,LINC02852,LINC02351,SYNM-AS1,RN7SL484P,RN7SKP181,SNRPA1,NR2F2,HSP90B2P,RN7SL677P,RNU6-1186P,RNU6-807P,HNRNPA1P62,RN7SL209P,RNU6-181P,RN7SKP254,RNU6-322P,LINC02253,LINC02157,ST8SIA2,H3P40,SNRPA1-DT,CHSY1,SYNM
Controls
No Control Data Available
No Animal Model Data Available