8q22.2-q22.3CNV Type: Duplication
Largest CNV size: 1167016 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
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
Title
Author, Year
Report Class
CNV Type
Large-scale discovery of novel genetic causes of developmental disorders.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_24_ASD/DD/ID_discovery_cases
CMA read files performed by the Laboratrio Neurogene in Florianpolis, Santa Catarina, Brazil, upon request by medical geneticists and neurologists for investigative/diagnostic purposes, primarily from the Joana de Gusmo Children's Hospital, but also from MDs from the University Hospital Professor Polydoro Ernani de So Thiago and from private clinics in Florianpolis, State of Santa Catarina, betwee
1012
83% of cases presented with developmental delay (DD) and/or intellectual disability (ID), with 33% of cases presented with autism spectrum disorder.
Mean age, 10yrs. (median7.15 yrs., standard deviation10.2).
60.77% Male
3484004
1
0
1
fitzgerald_14_ASD/DD/ID_discovery_cases
Children recruited through all 24 regional genetics services of the UK National Health Service and Republic of Ireland as part of the Deciphering Developmental Disorders Study
1133
Cases affected by severe, undiagnosed developmental disorders; most common phenotypes include developmental delay, intellectual disability, specific learning disability, autism, seizures, microcephaly, and dysmorphic features.
Median age, 5.5 years
N/A
383253
0
1
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
1167016
0
1
1
sinajon_15_ASD/ID_discovery_cases
Eldest of four children (younger siblings were healthy and developmentally normal) born to parents with no known consanguinity
1
Case diagnosed with autism spectrum disorder and moderate intellectual disability (diagnostic tools N/A)
40 yrs.
Male
3351000
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
chaves_24_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
fitzgerald_14_ASD/DD/ID_discovery_cases
UK and Ireland
aCGH, WES
Agilent 2x1M, Agilent Exome+
Cnsolidate, CoNVex
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
sinajon_15_ASD/ID_discovery_cases
European
aCGH
OGT 4x180K
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
chaves_24_ASD/DD/ID_discovery_cases-case549
M
Developmental delay
Gross motor delay
100253508
103737511
3484004
GRCh38
Deletion
No
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262418
N/A
F
Intellectual disability
Intellectual disability; Generalized hypotonia; Cystinuria; Abnormality of the cerebellar vermis
100213707
100596960
383254
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000784
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
100023254
101190270
1167017
GRCh38
Duplication
Yes
sinajon_15_ASD/ID_discovery_cases-case1
40 yrs.
M
ASD and ID
Case diagnosed with autism spectrum disorder (diagnostic tools N/A). Birth/neonatal history: born to 22-year-old G1P0 mother after uncomplicated pregnancy with no teratogenic exposures and no maternal illness; patient born at 41-42 weeks gestation by forceps delivery; birth weight 8 lbs (75th-90th %ile) and length of 57 cm (+3.66 SD); birth head circumference unknown but reportedly proportionate to other growth parameters; patient appears cyanotic at birth but did not require resuscitation; treated for staphylococcus infection; received phototherapy for jaundice; no difficulties in bottle feeding. Developmental milestones: walking at 13 months; toilet trained at 3.5 years; speech language development affected by bilateral hearing loss due to hypoplastic auditory canals (diagnosed and fitted for hearing aids at age of 2 years). Lanaguage and communication evaluation: overall limited language, receptive language observed to be much greater than expressive language; able to cummincate using sentences up to 4 words in length; articulation difficulties; does communicate non-verbally by pointing or pulling. Motor and musculoskeletal evaluation: normal neurological exam with waddling gait noted. Behavioral/psychiatric evaluation: current behavioral issues include touching, poking, and teasing others; normal eye contact. Epilepsy/seizures: tonic-clonic and grand mal seizures in early childhood responsive to medications; no seizures since teenage years. EEG: normal. Additional medical history: found in childhood to have partial anomalous pulmonary venous connection of right upper lobe pulmonary veins and pulmonary venous malformation, causing recurrent perioral and peripheral cyanosis; multiple episodes of bronchitis and pneumonia. Dysmorphic features: high forehead, facial asymmetry (right side smaller than left side), ears were asymmetrical in length (right measuring 7 cm and left 7.5 cm), both ears were overfolded with posterior crease, small palpebral fissures, tubular nose, slightly hypoplastic nares, short philtrum, prominent lips, short and broad neck, gynecosmastia, small phallus, bilateral descended testes. Growth parameters: weight of 99 kg (95th-97th %ile), height of 170.9 cm (10th-25th %ile), and head circumference of 59.7 cm (+3.45 SD) at age of 40 years. Family history: eldest of four children (younger siblings healthy and developmentally normal); father with color blindness, left-side tone deafness and bladder cancer in remission; mother with hypothyroidism and hearing loss (likely secondary to a viral infection, requiring a hearing aid); parental head circumferences >2 SD; unremarkable paternal family history; maternal family history non-contributory except for maternal aunt (8-year-old sister of proband's mother) with history of developmental delay who passed away during hospitalization.
Moderate intellectual disability (diagnostic tools N/A)
99130152
102480673
3350522
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
chaves_24_ASD/DD/ID_discovery_cases-case549
Unknown
ATP6V1C1,PABPC1,AZIN1,UBR5,RRM2B,ZNF706,BAALC,SLC25A32,GRHL2,NCALD,NACA4P,CTHRC1,ANKRD46,BAALC-AS2,SNX31,LINC01181,RPS26P6,GASAL1,DUXAP2,PDCL3P2,GAPDHP62,POU5F1P2,ODF1,RNU7-67P,RPS20P23,RPL5P24,RPS12P15,ADI1P2,SUMO2P19,BAALC-AS1,MIR3151,NPM1P52,MAILR,MIR5680,MIR4471,MTND1P5,UBR5-DT,MIR7705,LINC02844,LINC02845,KLF10,SPAG1,RNU6-1224P,RN7SL685P,RN7SL563P,RNU6-1092P,RNU4-83P,MTCO2P4,RNU6-1011P,MTCO1P4,RNU6ATAC8P,RN7SKP249,HSPE1P14,RNU6ATAC41P,PTMAP15,YWHAZ,FZD6,ZNNT1,RIMS2,DCAF13,RNF19A
fitzgerald_14_ASD/DD/ID_discovery_cases-DECIPHER262418
Paternal
Simplex
Unknown
MIR4471,GAPDHP62,SPAG1,RNF19A,ANKRD46,SNX31
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000784
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
POLR2K,MIR4471,GAPDHP62,RNU6-1092P,MIR7705,RNU6ATAC41P,RPS20P23,RNU4-83P,RPS26P6,RN7SL685P,RN7SKP249,SPAG1,PABPC1,RGS22,FBXO43,RNF19A,ANKRD46,YWHAZ,FLJ42969,ZNF706,SNX31
sinajon_15_ASD/ID_discovery_cases-case1
FISH
De novo
Simplex (for ASD and ID)
Possibly segregated
MIR599,MIR875,RN7SL350P,SNORD77B,POLR2K,MIR4471,GAPDHP62,RNU6-1092P,MIR7705,RNU6ATAC41P,RPS20P23,RNU4-83P,RPS26P6,RN7SL685P,RN7SKP249,RNU7-67P,DUXAP2,RN7SL563P,MIR5680,SUMO2P19,RNU6ATAC8P,HSPE1P14,SPAG1,PABPC1,NACA4P,UBR5-AS1,COX6C,RGS22,FBXO43,RNF19A,ANKRD46,YWHAZ,FLJ42969,ZNF706,GRHL2,RRM2B,UBR5,VPS13B,NCALD,SNX31
Controls
No Control Data Available
No Animal Model Data Available