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11q24.3-q25CNV Type: Deletion


Largest CNV size: 6318923 bp

Statistics Box:
Number of Reports: 8



Summary Information

Summary statement in development

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

            Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Copy number variations associated with autism spectrum disorders contribute to a spectrum of neurodevelopmental disorders.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Application of custom-designed oligonucleotide array CGH in 145 patients with autistic spectrum disorders.
Deletion
An unbalanced translocation involving loss of 10q26.2 and gain of 11q25 in a pedigree with autism spectrum disorder and cerebellar juvenile pilocyt...
Duplication
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Duplication
NA
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
NA
Deletion

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 akshoomoff_14_ASD_discovery_cases
 17 patients with Jacobsen syndrome (11q terminal deletion disorder), prospectively recruited from the 11q Research and Resource Group; and 3 additional patients with atypical distal 11q deletions
 20
 Diagnosis of ASD assessed using ADOS (n=18) or ADI-R (n=2). Cognitive abilities in cases assessed using the Bayley Scales of Infant and Toddler Development, Third Edition; the Differential Ability Scales; the Wechsler Intelligence Scale for Children, Fourth Edition; or the Wechsler Adult Intelligence Scale, Fourth Edition.
 Range, 3.8-21.9 yrs.
 20.0% Male
 6100000
 1
 0
 1
 digregorio_17_DD/ID_discovery_cases
  NA NA
 Consecutive cases examined in the Medical Genetics Unit at the "Citta della Salte e della Scienza" University Hospital (Turin, Italy) from 2008 to 2014 (cases with CNVs are present in DECIPHER database)
 1015
 Cases diagnosed with idiopathic developmental delay and/or intellectual disability (DD/ID)
 N/A
 N/A
 6000000
 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
 5297976
 2
 0
 2
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 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
 6200000
 1
 0
 1
 minhas_13_ASD_discovery_cases
 Brothers born to healthy non-consanguineous parents and no family history of ASD or intellectual disability
 2
 Older brother with confirmed diagnosis of ASD (based on evaluation with ADOS-Module 3 and ADI-R); younger brother with possible diagnoses of Tourette syndrome and PDD-NOS (N/A for standardized testing)
 Range, 5-7 yrs.
 Male
 4200000
 0
 2
 2
 pinto_14_ASD_discovery_cases
 ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
 1359
 Cases classified according to ADOS and ADI-R
 N/A
 N/A
 948868
 0
 1
 1
 rosenfeld_10_ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that had ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 1461
 ASD
 
 
 6318923
 1
 0
 1
 rosenfeld_10_non-ASD_discovery_cases
 Samples submitted between 3/2004 and 7/2008 that did not have ASD as indication for study (Signature Genomic Labs, Spokane, WA)
 21219
 Controls (no diagnosis or indication of ASD)
 
 
 
 3
 0
 3
 wisniowiecka-kowalnik_12_ASD_discovery_cases
 ASD patients from 132 simplex and 13 multiplex families of Polish descent
 145
 Diagnosis of ASD based on ICD-10 standards and Childhood Autism Rating Scale (CARS) protocol. 45 cases with additional diagnosis of developmental delay /intellectual disability.
 Range, 3-26 yrs.
 84.83% Male
 500000
 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
 akshoomoff_14_ASD_discovery_cases
  N/A
 aCGH
  Signature Genomics custom-designed OS V2.0
 
 
 None
 digregorio_17_DD/ID_discovery_cases
  Italian
 aCGH
  Agilent 60K (SurePrint G3 Human CGH Microarray 8x60K)
 ADM-2
 Agilent CGH Analytics software ver. 4.0.81
 qPCR
 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
 minhas_13_ASD_discovery_cases
  N/A
 aCGH
  Genome-wide clinical microarray (no other info available)
 
 
 FISH, aCGH
 pinto_14_ASD_discovery_cases
  Predominantly European
 Solid phase hybridization
  Illumina 1M (v.1 and v.3)
 
 
 qPCR, MLPA, long-range PCR
 rosenfeld_10_ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 rosenfeld_10_non-ASD_discovery_cases
 
 aCGH
  BACs aCGH, whole-genome oligo-aCGH
 
 
 FISH
 wisniowiecka-kowalnik_12_ASD_discovery_cases
  Polish
 aCGH
  OLIGO V8.0 and V8.1 exon-targeted CMA (MGL/BCM)
 
 BCM web-based software, custom-designed IMiD-web2py software
 FISH

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
  akshoomoff_14_ASD_discovery_cases-patient18
 3.8 yrs.
 M
 ASD
 Research diagnosis: ASD. ADOS classification: autism. SCQ score above cutoff: yes. Family history: nother with mild intellectual disability.
 IQ estimate: 55 (test given: Bayley Scales of Infant and Toddler Development, Third Edition). VABS-II composite score: 51.
 128762884
 135006516 (approximate endpoint)
  6100000
 Unknown
 Deletion
 No
  digregorio_17_DD/ID_discovery_cases-DECIPHER_283326
  NA NA
 N/A
 F
 Developmental delay/intellectual disability
 
 
 128858561
 134998513
  6139953
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002318
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 130060292
 135040246
  4979955
 GRCh38
 Deletion
 Yes
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004621
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 129700536
 134998513
  5297978
 GRCh38
 Deletion
 Yes
  maini_18_ASD/DD/ID_discovery_cases-case_unknown13
  NA NA
 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 pathogenic
 
 128811075
 134998513
  6187439
 GRCh38
 Deletion
 No
  minhas_13_ASD_discovery_cases-case1
 7 yrs.
 M
 ASD
 Diagnosis of ASD based on evaluation with ADOS-Module 3 and ADI-R. Birth/neonatal history: born healthy after normal pregnancy (birth weight of 7 lb.); noted to have feeding difficulties and difficulty fixing and tracking visually (eventually diagnosed with alternating esotropia for which he had corrective surgery with partial vision improvement). Developmental milestones: motor skills showed considerable delay secondary to generalized hypotonia; unable to sit without support until 18 months, unable to walk indepdently until 3 years; noted to have fine motor delays; delayed language development; characteristics of verbal apraxia noted at 14 months; at 23 months case had age-appropriate receptive language skills, but expressive language skills fell 2 SDs below mean; first clear words at 3 years of age, after which language development advanced rapidly. Language and communication evaluation: assessment using Differential Ability Scales-II (DAS-II) suggested that expressive vocabulary stronger than receptive language skills); PPVT-4 evaluation showed single-word receptive language within average range (score of 101, 53rd %ile); ADOS showed usage of complex language primarily involving short sentences with occasional use of unusual language and some repetitive questioning. Behavioral/psychiatric evaluation: limited eye contact, spontaneous gesturing and range of facial expression; engaged in some atypical social interactions; limited ability to describe emotions; exhibited some sensory-seeking behaviors; noted to be very sensitive to certain textures; developed fixations and obsessional behavior; intermittent motor tics, including blinking. Epilepsy/seizures: no history of seizures. Dysmorphic features: none reported. Growth parameters: head circumference in 24th %ile at 28 months of age (no other parameters reported). Family history: younger brother with possible diagnoses of PDD-NOS and Tourette syndrome (minhas_13_ASD_discovery_cases-case2); born to healthy non-consanguienous parents with no family history of ASD or intellectual disability (parents had previous pregnancy that ended in miscarriage); father found by FISH analysis to be carrier of balanced translocation involving chromosomes 10 & 11.
 Assessment with Differential Ability Scales-II (DAS-II) indicated overall cognitive abilities in low-average range (GCA score of 89, 23rd %ile); assessment of adaptive behavior using Vineland-II showed adaptive behavior composite in moderately low range (communication, receptive communication, and expressive communication in adequate range; daily living skills and socialization in moderately low range; motor skills in low range).
 130543443
 134562430
  4018988
 GRCh38
 Duplication
 Yes
  minhas_13_ASD_discovery_cases-case2
 5 yrs.
 M
 PDD-NOS and Tourette syndrome
 Primary diagnosis of PDD-NOS and Tourette syndrome among diagnoses considered by case's child psychiatrist (case not available for standardized testing). Medical history: case exhibited strabismus and GERD at age 3-4 months along with intermittent episodes of tonic stiffening; also noted to have decreased fine motor skills, apraxia, difficulty with motor planning, and mild axial and appendicular hypotonia; some concern regarding torticollis (given tentative diagnosis of Sandifer syndrome); MRI at age of 3 years 7 months revelaed left cerebellar juvenile pilocytic astrocytoma, which was removed shortly thereafter and led to significant improvement (case now able to run downhill, demonstrated improved fine motor skill, and reduced episodes of intermittent eye fluttering and unresponsiveness). Behavioral/psychiatric evaluation: subsequent to surgery to remove left cerebellar juvenile pilocytic astrocytoma, patient exhibited OCD symptoms and tics similar to brother; these symptoms continued up to time of report. Dysmorphic features: none reported. Growth parameters: head circumference at 25th %ile at age of 12 months (no other parameters given). Additional genetic information: carried unbalanced translocation involving chromosomes 10 & 11. Family history: older brother with ASD diagnosis (minhas_13_ASD_discovery_cases-case1); born to healthy non-consanguienous parents with no family history of ASD or intellectual disability (parents had previous pregnancy that ended in miscarriage); father found by FISH analysis to be carrier of balanced translocation involving chromosomes 10 & 11.
 
 130543443
 134562430
  4018988
 GRCh38
 Duplication
 Yes
  pinto_14_ASD_discovery_cases2-case6185_5
 N/A
 M
 ASD
 Clinical profile: N/A.
 Cognitive profile: N/A.
 130769783
 131718651
  948869
 GRCh38
 Duplication
 Yes
  rosenfeld_10_ASD_discovery_cases-case19581
 NA
 NA
 ASD
 NA
 NA
 128100459
 134419382
  6318923
 Unknown
 Deletion
 Yes
  wisniowiecka-kowalnik_12_ASD_discovery_cases-patient4
 12
 M
 Autism
 Autism, epilepsy, precocious puberty, muscle hypotonia, scoliosis, flat feet, genu valgity. Family history: brother with autism, paternal uncle with schizophrenia, maternal family history positive for intellectual disability (two cousins).
 Mild intellectual disability (ID)
 130765050
 131240919
  475870
 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
 akshoomoff_14_ASD_discovery_cases-patient18
 
 Possibly maternal
 Unknown
 Unknown
 Unknown
 Estimated gene content: KCNJ5,C11orf45,TP53AIP1,ARHGAP32,BARX2,TMEM45B,NFRKB,PRDM10,APLP2,ST14,ZBTB44,ADAMTS8,ADAMTS15,C11orf44,SNX19,NTM,OPCML,SPATA19,IGSF9B,JAM3,NCAPD3,VPS26B,THYN1,ACAD8,GLB1L3,GLB1L2,B3GAT1
 
 digregorio_17_DD/ID_discovery_cases-DECIPHER_283326
 qPCR
 
 De novo
 
 
 C11orf45,RNU6-876P,RNU6-874P,ZNF123P,RPS27P20,LINC00167,ELOBP2,RPL34P21,DDX18P5,RN7SL778P,BAK1P2,MIR8052,PPP1R10P1,RN7SL167P,RNU6ATAC12P,NTM-AS1,OPCML-IT2,MIR4697HG,MIR4697,PTP4A2P2,ACAD8,KCNJ5,TP53AIP1,BARX2,LINC01395,TMEM45B,PRDM10,APLP2,ST14,ADAMTS15,LINC02551,SNX19,NTM-IT,OPCML-IT1,SPATA19,VPS26B,THYN1,GLB1L3,B3GAT1,KCNJ1,NFRKB,ZBTB44,ADAMTS8,C11orf44,IGSF9B,JAM3,GLB1L2,ARHGAP32,NTM,OPCML,NCAPD3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002318
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RPL34P21,DDX18P5,RN7SL778P,BAK1P2,MIR8052,PPP1R10P1,RN7SL167P,RNU6ATAC12P,NTM-AS1,OPCML-IT2,MIR4697HG,MIR4697,PTP4A2P2,ACAD8,APLP2,ST14,ADAMTS15,LINC02551,SNX19,NTM-IT,OPCML-IT1,SPATA19,VPS26B,THYN1,GLB1L3,B3GAT1,ZBTB44,ADAMTS8,C11orf44,IGSF9B,JAM3,GLB1L2,NTM,OPCML,NCAPD3
 
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004621
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Paternal
 Unknown
 Unknown
 LINC00167,ELOBP2,RPL34P21,DDX18P5,RN7SL778P,BAK1P2,MIR8052,PPP1R10P1,RN7SL167P,RNU6ATAC12P,NTM-AS1,OPCML-IT2,MIR4697HG,MIR4697,PTP4A2P2,ACAD8,TMEM45B,PRDM10,APLP2,ST14,ADAMTS15,LINC02551,SNX19,NTM-IT,OPCML-IT1,SPATA19,VPS26B,THYN1,GLB1L3,B3GAT1,NFRKB,ZBTB44,ADAMTS8,C11orf44,IGSF9B,JAM3,GLB1L2,NTM,OPCML,NCAPD3
 
 maini_18_ASD/DD/ID_discovery_cases-case_unknown13
 
 
 De novo
 Unknown
 Unknown
 C11orf45,RNU6-876P,RNU6-874P,ZNF123P,RPS27P20,LINC00167,ELOBP2,RPL34P21,DDX18P5,RN7SL778P,BAK1P2,MIR8052,PPP1R10P1,RN7SL167P,RNU6ATAC12P,NTM-AS1,OPCML-IT2,MIR4697HG,MIR4697,PTP4A2P2,ACAD8,KCNJ5,TP53AIP1,BARX2,LINC01395,TMEM45B,PRDM10,APLP2,ST14,ADAMTS15,LINC02551,SNX19,NTM-IT,OPCML-IT1,SPATA19,VPS26B,THYN1,GLB1L3,B3GAT1,FLI1,KCNJ1,NFRKB,ZBTB44,ADAMTS8,C11orf44,IGSF9B,JAM3,GLB1L2,ARHGAP32,NTM,OPCML,NCAPD3
 
 minhas_13_ASD_discovery_cases-case1
 aCGH
 
 Likely de novo (CNV not detected in either parent, father carries balanced translocation)
 Multiplex
 Possibly segregated
 BAK1P2,MIR8052,PPP1R10P1,RN7SL167P,RNU6ATAC12P,NTM-AS1,OPCML-IT2,MIR4697HG,MIR4697,PTP4A2P2,ACAD8,LINC02551,SNX19,NTM-IT,OPCML-IT1,SPATA19,VPS26B,THYN1,GLB1L3,B3GAT1,C11orf44,IGSF9B,JAM3,GLB1L2,NTM,OPCML,NCAPD3
 
 minhas_13_ASD_discovery_cases-case2
 FISH, aCGH
 
 Likely de novo (CNV not detected in either parent, father carries balanced translocation)
 Multiplex
 Possibly segregated
 BAK1P2,MIR8052,PPP1R10P1,RN7SL167P,RNU6ATAC12P,NTM-AS1,OPCML-IT2,MIR4697HG,MIR4697,PTP4A2P2,ACAD8,LINC02551,SNX19,NTM-IT,OPCML-IT1,SPATA19,VPS26B,THYN1,GLB1L3,B3GAT1,C11orf44,IGSF9B,JAM3,GLB1L2,NTM,OPCML,NCAPD3
 
 pinto_14_ASD_discovery_cases2-case6185_5
 qPCR
 
 Paternal
 Multiplex
 (no siblings)
 PPP1R10P1,RN7SL167P,RNU6ATAC12P,NTM-AS1,LINC02551,SNX19,NTM
 
 rosenfeld_10_ASD_discovery_cases-case19581
 FISH
 
 De novo
 Unknown
 Unknown
 FLI1,KCNJ1,KCNJ5,C11orf45,TP53AIP1,ARHGAP32,BARX2,TMEM45B,NFRKB,PRDM10,APLP2,ST14,ZBTB44,ADAMTS8,ADAMTS15,SNX19,NTM,OPCML,SPATA19,IGSF9B,JAM3,NCAPD3,VPS26B,THYN1,ACAD8,GLB1L3,GLB1L2,B3GAT1
 
 wisniowiecka-kowalnik_12_ASD_discovery_cases-patient4
 FISH
 
 Maternal
 Multiplex
 Segregated
 PPP1R10P1,RN7SL167P,LINC02551,SNX19
 

Controls

No Control Data Available
No Animal Model Data Available
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