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22q11.2CNV Type: Duplication


Largest CNV size: 3000000 bp

Statistics Box:
Number of Reports: 6



Summary Information

Duplications within the DiGeorge Syndrome region (22q11.21) were identified.

Additional Locus Information

Genome browsers

USCS Symbol             NCBI Symbol

Decipher

Decipher Symbol                         Decipher Symbol

References

Major Reports

Title
Author, Year
Report Class
CNV Type
Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplica...
Duplication
Array comparative genomic hybridization findings in a cohort referred for an autism evaluation.
Duplication
Evidence for involvement of GNB1L in autism.
Duplication
22q11 deletion syndrome and multiple complex developmental disorder: a case report.
Deletion

Minor Reports

Title
Author, Year
Report Class
CNV Type
Autistic disorder and 22q11.2 duplication.
Duplication
Microduplication 22q11.2 in a child with autism spectrum disorder: clinical and genetic study.
Duplication

Cases

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 cai_08_ASD_discovery_cases
 Unrelated individuals with autism or ASD recruited by SARC and/or AGRE
 279
 270 cases diagnosed with autism, 2 with Asperger's, 1 with PDD-NOS, 3 with not quite autism (NQA), 3 with broad spectrum autism
 Mean 7.94 yrs
 79.6% Male
 3000000
 0
 2
 2
 chen_11_ASD_discovery_cases
 Unrelated ASD cases from multiplex families ( 2 children with ASD); many of these families have been previously used in genetics studies (2 linkage studies, 1 rare single gene mutation study).
 513
 Diagnosis of autism or ASD based on meeting DSM-IV criteria following assessment by trained clinicians using ADI-R & ADOS-G
 
 
 3000000
 0
 2
 2
 mukaddes_07_ASD_discovery_cases
 9-year-old female with ASD
 1
 ASD
 9
 Female
 N/A
 0
 1
 1
 ramelli_08_ASD_discovery_cases
 4-year-old male diagnosed with ASD
 1
 ASD
 4
 Male
 N/A
 0
 1
 1
 scandurra_13_ASD_discovery_cases
 Caucasian male patient born to healthy unrelated patients with 22q11.2 deletion
 1
 ASD and psychotic disorders (anxiety disorder, separation anxiety disorder, ADHD-like features). Diagnosis of ASD based on ADOS module 4 and ADI-R evaluation. Other diagnostic tools used in assessing case include WISC-III, VABS-II, CBCL/4-18, CPRS-R:L, and K-SADA-PL.
 15 yrs.
 Male
 1500000
 1
 0
 1
 schaefer_10_ASD_discovery_cases
 Patients selected for aCGH studies between 2005 and 2007 at Human Genetics Laboratory at Univ. of Nebraska
 68
 Primary indication noted on request form of autism. 54 patients with simple (non-syndromic) autism, 14 patients with complex (syndromic) autism.
 
 
 NA
 0
 2
 2

Controls

Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
 cai_08_ASD_discovery_controls
 Controls
 248
 Controls
 
 70.2% Male
 3000000
 0
 0
 0

Cases

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
 cai_08_ASD_discovery_cases
  205 Caucasian, 6 African-American, 24 Hispanic or Latino, 5 Asian, 11 mixed ethnicity, 28 unknown
 MLPA
  ABI 3130 genetic analyzer (Applied Biosystem)
 
 GeneMarker
 Direct DNA sequencing qPCR, FISH
 chen_11_ASD_discovery_cases
  80% White, 10% mixed-race, 10% US minorities
 qPCR
  Taqman copy number assay/Applied Biosystems 7500 Real-Time PCR system
 
 Copy Caller Software V1.0 (Applied Biosystems)
 aCGH (custom Agilent 400K oligo array)
 mukaddes_07_ASD_discovery_cases
  Middle Eastern
 FISH
 
 
 
 
 ramelli_08_ASD_discovery_cases
  European
 FISH
 
 
 
 
 scandurra_13_ASD_discovery_cases
  Caucasian
 aCGH
  N/A
 
 
 MLPA
 schaefer_10_ASD_discovery_cases
 
 aCGH
  Spectral Genomics Constitutional Array, Spectral Chip 2600 Array (1 Mb)
 
 GenePix Pro 6.0, SpectralWare CGH analysis software
 FISH

Controls

Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
  cai_08_ASD_discovery_controls
  Caucasian
  qPCR
  ABI Prism 7900 HT (Applied Biosystem)
 
  Sequence Detection
 

Cases

Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
  cai_08_ASD_discovery_cases-AU001804
 4.1
 M
 Autism
 Non-verbal language 10, Repetitive behavior 6, Onset 5, Raven 131, epicanthal folds, prominent ears, retrognathia, ligamentous laxity
 NA
 
 
  3000000
 Unknown
 Duplication
 Yes
  cai_08_ASD_discovery_cases-AU004903
 5.7
 F
 Autism
 Non-verbal language 13, Repetitive behavior 6, Onset 4, Raven 83, epicanthal folds, midface hypoplasia, abnormal pigmentation
 NA
 
 
  3000000
 Unknown
 Duplication
 Yes
  chen_11_ASD_discovery_cases-caseAU142-03
 
 F
 Autism
 Family history: monozygotic twin sister has paternally-inherited 22q11.2 duplication & diagnosis of ASD; father showed decreased social motivation and limited range of interests/flexibility as assessed by Broader Phenotype Autism Symptom Scale (BPASS).
 Low IQ (full-scale IQ 49)
 17000000 (approximate)
 20000000 (approximate)
  3000000
 Unknown
 Duplication
 Yes
  chen_11_ASD_discovery_cases-caseM2017-03
 
 M
 Autism
 Family history: sister, who has diagnosis of autism/ASD, lacks 22q11.2 duplication
 
 17000000 (approximate)
 20000000 (approximate)
  3000000
 Unknown
 Duplication
 Yes
  davis_09_ASD_discovery_cases-AU1437302
 NA
 NA
 Syndromic ASD
 Diagnosis: autism. Syndromic autism features: cleft lip and palate
 
 21031117
 21651381
  230304
 Unknown
 Deletion
 No
  mukaddes_07_ASD_discovery_cases-patient1
 9
 F
 ASD
 Impaired social skills, stereotypical behaviors, delayed motor and speech, facial dysmorphism
 NA
 
 
  N/A
 Unknown
 Duplication
 No
  ramelli_08_ASD_discovery_cases-patient1
 4
 M
 ASD
 Developmental delay, no verbal communication skills, repetitive behaviors, severe lack of social interactions
 NA
 
 
  N/A
 Unknown
 Duplication
 No
  scandurra_13_ASD_discovery_cases-case1
 15 yrs.
 M
 ASD and psychotic disorders
 Assessment results using ADOS-module 4: communication score of 4 (> cut-off autism); social interaction score of 5 (>ASD); total (communication and social interaction) score of 9 (>ASD); imagination score of 1; stereotyped behavior and restricted interests score of 2. Assessment results using ADI-R: reciprocal social interaction score of 14 (>ASD); communication score of 13 (>ASD); restricted, repetitive, and stereotyped patterns of behaviors score of 10 (>ASD); abnormality of development evident at or before 36 months score of 3 (>ASD). K-SADS-PL assessment: anxiety disorders; Separation Anxiety Disorder (SAD). CBCL/4-18 assessment: withdrawn score of 88-C (>98th %ile); somatic complaints score of 91-C (>98th %ile); anxious/depressed score of 81-C (>98th %ile); social problems score of 87-C (>98th %ile); thought problems score of 82-C (>98th %ile); attention problems score of 89C (>98th %ile); aggressive behavior score of 68-B (97th %ile). CPRS-R:L assessment: oppositional score of 78; cognitive/inattentive score of 69; hyperactivity score of 76; anxious/shy score of 97; perfectionism score of 62; social problems score of 100; psychosomatic score of 99; Conners' ADHD Index score of 79; I:CGI Restlessness-Impulsive score of 71; J-CGI-Emotional Lability score of 83; K-CGI Total score of 76; L:DSM-IV Inattentive score of 76; M-DSM-IV Hyperactive-Impulsive score of 76; DSM-IV total score of 79. Developmental milestones: slightly delayed psychomotor development (sitting at 11 months, walking at 18 months); first words at 12 months, complete phrases at 24 months; pointing at objects present at 30 months (other communicative gestures were poor); developed literal comprehension of language with difficulties understanding metaphorical sentences. Motor and musculoskeletal evaluation: mildly reduced muscle tone, reported fatigue, normal muscle trophism; patient able to walk and run; global clumsiness; poor fine motor skills; hyperlaxity of ligaments, flat feet. Behavioral/psychiatric evaluation: extensive neuropsychiatric evaluation (see above); poor interaction with peers, difficulties in modulating social interaction with peers (excessive intrusiveness or avoidance); development of selective interest in limited range of objects; excessive anxiety concerning separation from parents; occassional aggressive behavior toward family members; ADHD-like features of hyperactivity, impulsivity, and inattention. EEG: normal. Brain imaging: brain MRI within normal limits. Ohter features: immunological profile showed mild IgG-IgM reduction, mild lynphopenia, and hypo-gamma-globulinemia. Dysmorphic features: mild facial dysmorphisms (long face, ocular hypertelorism, small ears, prominent nose with bulbous tip). Family history: born to healthy unrelated parents; healthy younger sister.
 WISC-III assessment results: full scale IQ of 77, verbal IQ of 90, performance IQ of 69; verbal comprehension score of 93; perceptual organization score of 72; freedom from distractibility score of 78; processing speed score of 85. VABS-II assessment results: adaptive behavior composite score of 61 (communication score of 59, daily living skills score of 63, socialization score of 64, motor skills score of 75, maladaptive behavior scale index was clinically significant)
 N/A
 N/A
  1500000
 Unknown
 Deletion
 Yes
  schaefer_10_ASD_discovery_cases-case1
 NA
 M
 Autism
 Simple (non-syndromic autism). Behavior problems. No dysmorphisms.
 Developmental delay
 NA
 NA
  NA
 Unknown
 Duplication
 Yes
  schaefer_10_ASD_discovery_cases-case10
 NA
 F
 Autism
 Complex (syndromic) autism. Hypotonia. Microcephaly, macrostomia, esotropia.
 Developmental delay
 NA
 NA
  NA
 Unknown
 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
 cai_08_ASD_discovery_cases-AU001804
 FISH
 
 Paternal
 Multiplex
 Not segregated
 
 
 cai_08_ASD_discovery_cases-AU004903
 FISH
 
 De novo
 Multiplex
 Not segregated
 
 
 chen_11_ASD_discovery_cases-caseAU142-03
 aCGH (custom Agilent 400K oligo array)
 Possibly paternal
 Paternal
 Multiplex
 Segregated
 Approximate gene content: USP18,DGCR6,PRODH,DGCR2,DGCR14,TSSK2,GSC2,SLC25A1,CLTCL1,HIRA,MRPL40,C22orf39,UFD1L,CDC45,CLDN5,SEPT5,GP1BB,TBX1,GNB1L,C22orf29,TXNRD2,COMT,ARVCF,C22orf25,DGCR8,TRMT2A,RANBP1,ZDHHC8,LOC388849,RTN4R,DGCR6L,TMEM191B,RIMBP3,ZNF74,SCARF2,KLHL22,MED15,PI4KA,SERPIND1,SNAP29,CRKL,AIFM3,LZTR1,THAP7,P2RX6,SLC7A4
 
 chen_11_ASD_discovery_cases-caseM2017-03
 aCGH (custom Agilent 400K oligo array)
 
 De novo
 Multiplex
 
 Approximate gene content: USP18,DGCR6,PRODH,DGCR2,DGCR14,TSSK2,GSC2,SLC25A1,CLTCL1,HIRA,MRPL40,C22orf39,UFD1L,CDC45,CLDN5,SEPT5,GP1BB,TBX1,GNB1L,C22orf29,TXNRD2,COMT,ARVCF,C22orf25,DGCR8,TRMT2A,RANBP1,ZDHHC8,LOC388849,RTN4R,DGCR6L,TMEM191B,RIMBP3,ZNF74,SCARF2,KLHL22,MED15,PI4KA,SERPIND1,SNAP29,CRKL,AIFM3,LZTR1,THAP7,P2RX6,SLC7A4
 
 davis_09_ASD_discovery_cases-AU1437302
 
 
 Unknown
 Unknown
 Unknown
 ZNF280B, ZNF280A, PRAME, GGTLC2
 
 mukaddes_07_ASD_discovery_cases-patient1
 
 
 Paternal
 Simplex
 NA
 
 
 ramelli_08_ASD_discovery_cases-patient1
 
 
 De novo
 Simplex
 NA
 
 
 scandurra_13_ASD_discovery_cases-case1
 MLPA
 
 Unknown
 Simplex
 Unknown
 N/A
 
 schaefer_10_ASD_discovery_cases-case1
 FISH
 
 Unknown
 Unknown
 Unknown
 NA
 
 schaefer_10_ASD_discovery_cases-case10
 FISH
 
 Unknown
 Unknown
 Unknown
 NA
 

Controls

No Control Data Available

h22q11.2->m16qA3

# of Model: 5
# of References: 7

Mouse Chromosome Information

This mouse model features a deletion in the qA3 locus of chromosome 16, ranging from Dgcr2 to Hira. It is syntenic to a 1.5-Mb microdeletion in the q11.21 locus of human chromosome 22.

Model Summary

This is a mouse model of a 22q11.21 microdeletion that has been observed in individuals with autism and other neuropsychiatric disorders. Mice with this microdeletion display sensory, learning, and memory deficits.

External Links

UCSC Symbol         NCBI Symbol          NCBI Symbol

References

Report Type
Title
Author, Year
Additional
Mice deleted for the DiGeorge/velocardiofacial syndrome region show abnormal sensorimotor gating and learning and memory impairments.
Additional
Behavior of mice with mutations in the conserved region deleted in velocardiofacial/DiGeorge syndrome.
Primary
Altered brain microRNA biogenesis contributes to phenotypic deficits in a 22q11-deletion mouse model.
Additional
Cxcr4 regulation of interneuron migration is disrupted in 22q11.2 deletion syndrome.
Additional
Neuroanatomical phenotypes in a mouse model of the 22q11.2 microdeletion.
Additional
The pattern of cortical dysfunction in a mouse model of a schizophrenia-related microdeletion.
Additional
Deficits in microRNA-mediated Cxcr4/Cxcl12 signaling in neurodevelopmental deficits in a 22q11 deletion syndrome mouse model.

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