8p11.23-p11.22CNV Type: Deletion-Duplication
Largest CNV size: 163791 bp
Statistics Box:
Number of Reports: 5
Number of Reports: 5
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Genotype-phenotype association studies of chromosome 8p inverted duplication deletion syndrome.
Deletion
Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.
Deletion-Duplication
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
fisch_11_ASD_discovery_cases
Four cases initially diagnosed cytogenetically with chromosome 8p inverted duplication deletion [invdupdel(8p23)], blood from all 4 cases examined at M.I.N.D. Institute (Univ. of California, Davis)
4
3 cases with diagnosis of autism, 1 case with diagnosis of ADHD. Diagnosis on autism based on CARS. Attention/activity deficits (ADHD or ADD) assessed using CPRS-R. Cognitive abilities assessed using SBFE, adaptive behavior skills assessed with VABS.
Range, 3-15 yrs.
50% Male
149061
4
0
4
mahjani_22_OCD/CTD_discovery_cases
Subjects from the Epidemiology and Genetics of Obsessive-Compulsive Disorder and Chronic Tic Disorders in Sweden (EGOS) cohort from an initial cohort of 1249 affected individuals after quality control.
1210
993 cases diagnosed with obsessive-compulsive disorder (OCD) and 217 cases diagnosed with chronic tic disorder (CTD) according to ICD-10 crtieria (note: 91 cases were diagnosed with both OCD and CTD). A subset of cases in this cohort had additional diagnoses of autism spectrum disorder (ASD) and ADHD (according to ICD-10 criteria).
Age of at least 16 yrs. (in the year 1997).
42.15% Male
1721050
0
1
1
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
153296
0
1
1
shen_10b_ASD_discovery_cases
Father and son from a three-generation Chinese family with ASD and language delay.
2
Diagnosis of ASD based upon DSM-IV criteria.
Range, 12-41 yrs.
100% Male
163791
1
1
2
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
151363
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
fisch_11_ASD_discovery_cases
NA
aCGH
Agilent Human Genome CGH 244A
Feature Extraction Software v9.1, Agilent Genomic Workbench v5.0
None
mahjani_22_OCD/CTD_discovery_cases
Sweden
Solid phase hybridization
Illumina Infinium Global Screening Array
QuantiSNP, PennCNV, cnvPartition v.3.2.1
CNVision, Illumina GenomeStudio v.2.0
None
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
shen_10b_ASD_discovery_cases
Chinese
aCGH
Agilent 244K
DNA Analytics
vaags_11_ASD_discovery_cases
Canadian
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina Infinium 1M, Illumina Omni 2.5M, Agilent 1M
None
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
fisch_11_ASD_discovery_cases-case1
15 yrs.
F
Autism
Diagnosis of mild-to-moderate autism based on CARS score of 35.5 on re-examination (initial CARS core of 27.5 was in non-autistic range). Lack of expressive speech and language. Behavior consistent with DSM-IV diagnosis of ADHD (CPRS-R scores: 99th %ile for hyperactivity, 98th %ile for restlessness and impulsivity). CBCL results: T-score for attention (T=75) clinically significant; all other emotionality and temperament T-scores within normal range. Case often stared at people or into space for long periods. Dysmorphic features: somewhat long face, unusually wide open eyes. Parents showed normal microarray patterns.
SBFE not administered due to lack of expressive speech & language; overall VABS score of <20 indicates much lower than adequate levels of adaptive behavior.
39356395
39505456
149061
Unknown
Homozygous Deletion
No
fisch_11_ASD_discovery_cases-case2
3 yrs.
M
Autism
Diagnosis of mild autism based on CARS score of 32. Extremely limited speech & language. Lethargic, did not point or gesture, made no eye contact, did not want face to be touched. CBCL scores noted subclinical thought problems (T=67) and significant withdrawal from others (T=74). CPRS-R scores noted signficant anxious/withdrawn behaviors (100th %ile), psychosomatic problems (94th %ile), & emotional lability (95th %ile). Dysmorphic features: large head, prominent forehead. Parents showed normal microarray patterns.
VABS score of 51 (much lower than adequate levels of adaptive behavior)
39356395
39505456
149061
Unknown
Homozygous Deletion
No
fisch_11_ASD_discovery_cases-case3
13 yrs
F
Autism
Diagnosis of severe autism based on CARS score of 45.5. Severely impaired expressive speech & language. CBCL T-scores denoted severe thought problems (T=86), withdrawn (T=74), and social problems (T=75). CPRS-R scores for cognitive problems, hyperactivity, anxious/shy, perfectionistic, somatic problems, ADHD symptoms, restless/impulsive and emotionally labile scales >95th %ile. Parents showed normal microarray patterns.
Severe developmental & intellectual disability. SBFE test composite score (36) amd VABS adaptive behavior composite score (20) were at the floor value for both tests.
39356395
39505456
149061
Unknown
Deletion
No
fisch_11_ASD_discovery_cases-case4
15 yrs.
M
ADHD
CPRS-R scores in 95th %ile for hyperactivity, consistent with a DSM-IV diagnosis of ADHD. CARS score of 21 (not autistic). CBCL noted non-statistically significant thought & social problems. Clear expressive speech & language. Dysmorphic features: none. Parents showed normal microarray patterns.
Mild intellectual deficits (based on test composite on SBFE of 56); lower than adequate levels of adaptive behavior (adaptive behavior composite on VABS of 59)
39356395
39505456
149061
Unknown
Homozygous Deletion
No
mahjani_22_OCD/CTD_discovery_cases-case74
NA
F
OCD
Case diagnosed with obsessive compulsive disorder (OCD).
37337036
39058085
1721050
GRCh38
Duplication
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
39375485
39528780
153296
GRCh38
Duplication
No
shen_10b_ASD_discovery_cases-caseII:5
41 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: born at 40 weeks gestation, normal delivery. Developmental milestones: significant learning disability during childhood, speech delay. Language and communication evaluation: non-communicative. Motor and musculoskeletal evaluation: normal gait. Behavioral/psychiatric evaluation: repetitive motor mannerisms; social difficulty. History of alcohol abuse. Other medical concerns and comorbidities: elevated serum lipid and uric acid levels. Dysmorphic features: flat face, down-slanting eyes, broad nasal bridge, large submaxilla, thick upper lip, low-set ears, terminal broadening of fingers. Growth parameters: height, 160 cm; weight, 67 kg; BMI, 26.17; OFC, NA.
IQ not tested; significant childhood learning disability
39341524
39505315
163791
Unknown
Duplication
No
shen_10b_ASD_discovery_cases-caseIII:1
12 yrs.
M
ASD
Diagnosis of ASD based upon DSM-IV criteria. Birth/neonatal history: exposure to traditional Chinese medicine and second-hand smoke during pregnancy, born at 40 weeks gestation, normal delivery. Developmental milestones: growth delay; gross motor delay (sitting at 10 months, walking at 2 years); fine motor delay; speech delay (said "Mama and "Dada" at 2 years). Language and communication evaluation: no formal psychiatric evaluation; impairment in social interaction and communication, repetitive motor mannerisms, murmured to himself, irritability, unhappy mood. Motor and musculoskeletal evaluation: unsteady gait, scoliosis in chest and lumbar spine; wedge-shaped hemivertebra, or half vertebra in T7, L3. Behavioral/psychiatric evaluation:. EEG: normal. MRI: normal. Vision: bilateral myopia with right strabismus and ptosis. Other medical concerns and comorbidities: congenital heart defect (atrial septal defect/ASD). Dysmorphic features: low posterior hairline, significant hair growth on back, long and flat face, hypertelorism, down-slanting eyes, ptosis, strabismus in right eye, flat and broad nasal bridge, large submaxilla, retrognathia, thick lower lip, high palate, low-set ears, short webbed neck, terminal broadening of fingers, clinodactyly, single transverse palmar crease. Growth parameters: height, 135 cm (<3rd %ile; short stature); weight, 35 kg (50th %ile); BMI, 19.20; OFC, 53 cm (25th-50th %ile). Family history: father with ASD; brother with language delay but no ASD (also inherited 16p11.2 deletion from autistic father).
Mental retardation. WISC IQ score of 46.
39341524
39505315
163791
Unknown
Deletion
No
vaags_11_ASD_discovery_cases-probandF1-003
16 yrs. 7 mos.
M
Asperger syndrome
Diagnosis of Asperger syndrome based on ADI-R and clinical diagnosis. Language (as determined by Oral and Written Language Scales/OWLS): receptive language (RL) = 121 (92%); expressive language (EL) = declined to complete. Adaptive Behavior (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite (ABC) = 75(5%), communication (COM) = 96 (39%), daily living skills (DLS) = 94 (34%), and socialization (SOC) = 52 (<1%). Aggression, anger, anxiety, transition and stimulation (photo-, phono-, and osmophobia) difficulties, sleeplessness, depression, and headaches. Family history: brother with ADHD (lacks NRXN3 deletion); sister with Down syndrome (Trisomy 21; has NRXN3 deletion).
Leiter-R IQ: 119 (92nd %ile)
39378084
39529446
151363
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
fisch_11_ASD_discovery_cases-case1
Unknown (likely de novo based on parents' microarray results)
Unknown
ADAM5P, ADAM3A
fisch_11_ASD_discovery_cases-case2
Unknown (likely de novo based on parents' microarray results)
Unknown
ADAM5P, ADAM3A
fisch_11_ASD_discovery_cases-case3
Unknown (likely de novo based on parents' microarray results)
Unknown
ADAM5P, ADAM3A
fisch_11_ASD_discovery_cases-case4
Unknown (likely de novo based on parents' microarray results)
Unknown
ADAM5P, ADAM3A
mahjani_22_OCD/CTD_discovery_cases-case74
Unknown
ADRB3,FGFR1,EIF4EBP1,LSM1,BRF2,NSD3,PLEKHA2,RAB11FIP1,ZNF703,TM2D2,PLPP5,GOT1L1,LETM2,HTRA4,RNF5P1,C8orf86,RPS20P22,LINC01605,RPL12P48,TACC1,STAR,RNU6-988P,RN7SL709P,RNU6-323P,RNU6-607P,SNORD38D,ADAM9,ASH2L,BAG4,ERLIN2,PLPBP,ADGRA2,DDHD2
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
ADAM5,ADAM3A
shen_10b_ASD_discovery_cases-caseII:5
Paternal
Simplex
Unknown
0 genes
shen_10b_ASD_discovery_cases-caseIII:1
Paternal
Paternal
Simplex (ASD), Multiplex (language delay)
Not segregated
0 genes
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
ADAM5,ADAM3A
Controls
No Control Data Available
No Animal Model Data Available