1q21.3-q22CNV Type: Deletion
Largest CNV size: 714527 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Rare singleton deletion 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...
Deletion
Performance of chromosomal microarray for patients with intellectual disabilities/developmental delay, autism, and multiple congenital anomalies in...
Deletion
Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chong_14_DD/ID/ASD/MCA_discovery_cases
Patients referred to clinical genetics service and recruited for CMA application study
105
Developmental delay/intellectual disability (DD/ID), autism (ASD), and/or multiple congenital anomalies (MCA)
N/A
N/A
1240000
1
0
1
cravero_17_ASD/ID_discovery_cases
Last child in a family of six with five healthy sisters and healthy non-consanguineous parents with unremarkable family history that presented with a de novo 1q21.3-q22 microdeletion
1
Case initially diagnosed with autism at age of 3 years (based on communication and social interaction impairments and restricted, repetitive patterns of behavior and interests); psychiatric evaluation at age of 7 years 7 months confirmed original diagnosis of autism (CARS score of 38, indicating severe autism) and also led to a diagnosis of severe intellectual disability (Vineland-II developmental age equivalent to 12 months in areas of communication and social skills and 15 months in autonomy)
7 years 7 months
Male
1400000
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
714527
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
chong_14_DD/ID/ASD/MCA_discovery_cases
Chinese
aCGH
High-resolution 180K oligoarray
aCGH (NimbleGen)
cravero_17_ASD/ID_discovery_cases
Congolese
aCGH
N/A
FISH
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
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
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH4935
N/A
F
DD and autistic features
Severe developmental delay,autistic features, hypotonia, dysmorphic features
Severe developmental delay
154141542
155388230
1246689
GRCh38
Deletion
Yes
cravero_17_ASD/ID_discovery_cases-case1
7 yrs. 7 mos.
M
Autism and intellectual disability
Case initially diagnosed with autism at age of 3 years (based on communication and social interaction impairments and restricted, repetitive patterns of behavior and interests); diagnosis confirmed following psychiatric evaluation at age of 7 years 7 months (CARS score of 38, indicating severe autism). Birth/neonatal history: uneventful pregnancy; born at term at 38 weeks of gestation by emergency C-section; birth weight 2680 g, Apgar scores of 2-6; ventilation during first five minutes of life. Developmental milestones: began to walk at 23 months of age; delayed speech development (first words at age of 3 years, vocabulary later limited to three words); developmental regression noted after loss of sight at age of 4 years (increasingly important attachment to adults, grasping behavior, loss of walking, increased self-injurious behaviors, diet almost exclusively made up of dairy products). Motor and musculoskeletal evaluation: inability to walk (case moved on his back by jerking on the ground or requested to be carried); thin legs; genu valgus; genu recurvatum; hyperlaxity; clinodactyly of 4th and 5th fingers of the right hand and the left and right fifth toe. Behavioral/psychiatric evaluation: behavioral problems reported before the age of 2 years; self-injurious behaviors (intense and repeated mutilations of cheekbones and eyes culminating in bilateral blindness at age of 4 years by intumescent white cataract after numerous surgical complication; knee blows on face, punches against cheekbones, and head banging against walls noted following admission into dedicated neurodevelopmental child psychiatric unit at age of 7 years 7 months); mood fluctation, alternating between emotional outbursts with bursts of self-stimulatory behaviors (stereotypies) and significant irritability, intolerance to frustration, opposition behaviors, tantrums, and sleeping troubles. Epilepsy/seizures: epilepsy was not diagnosed by neuropediatric team. EEG: EEG after sleep deprivation identified a somewhat slow wake-up track for his age, with sleep figures and arrangements preserved; sleep plot showed predominant intermittent slow activity on the anterior and one or two spikes on temporal. Brain imaging: brain MRI detected multiple structural brain abnormalities (moderate enlargement of temporal horns and frontal horns of lateral ventricles, also associated with moderate expansion of hemispheric grooves, with thickening of cranial vault; moderate diffuse hyperintensity of supratentorial white matter and a change of intracranial visual ways associated with atrophy of the eyeballs). Additional medical history: xerostomia; feeding difficulties (regurgitation, vomiting, refusal of solid food, forced feeding, gastroesophageal reflux, constipation; altered intestinal transit with episodes of diarrhea, encopresis, and coprophagia); ear infections and inflammation of sinus mucosa; chronic rhinosinusitis; numerous cavity lesions. Dysmorphic features: broad-based flat nose, poor dental status, lanugo. Growth parameters: weight 25th %ile, height -0.5 SD, BMI of 14.2 kg/m(2), head circumference within normal range. Family history: last child in a family of six, with five healthy sisters; mother was 41 years old and father was 44 years old at time of birth; parents were not related, and family history was unremarkable.
Severe intellectual disability (Vineland-II developmental age equivalent to 12 months in areas of communication and social skills and 15 months in autonomy at age of 7 years 7 months)
154104996
155539091
1434096
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002379
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
154575689
155292901
717213
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
chong_14_DD/ID/ASD/MCA_discovery_cases-caseaCGH4935
Nimblegen aCGH
De novo
Unknown
Unknown
RN7SL431P,MIR190B,C1orf43,SNORA58B,HAX1,RNU6-239P,RNU6-121P,AQP10,RNU7-57P,RPSAP17,PSMD8P1,UBE2Q1-AS1,CHRNB2,PBXIP1,SHC1,MIR4258,LENEP,DCST1-AS1,EFNA4,EFNA3,EFNA1,SLC50A1,HMGN2P18,TRIM46,MIR92B,MTX1,MTX1P1,SCAMP3,PKLR,RUSC1,MIR555,RNU6-106P,TPM3,C1orf189,UBAP2L,ATP8B2,IL6R,SHE,UBE2Q1,ADAR,PYGO2,CKS1B,FLAD1,ZBTB7B,DCST2,DCST1,DPM3,KRTCAP2,THBS3,GBAP1,GBA,FAM189B,CLK2,HCN3,IL6R-AS1,TDRD10,KCNN3,PMVK,ADAM15,FDPS,RUSC1-AS1,ASH1L,NUP210L,MUC1
cravero_17_ASD/ID_discovery_cases-case1
FISH
De novo
Simplex
Segregated
RN7SL431P,MIR190B,C1orf43,SNORA58B,HAX1,RNU6-239P,RNU6-121P,AQP10,RNU7-57P,RPSAP17,PSMD8P1,UBE2Q1-AS1,CHRNB2,PBXIP1,SHC1,MIR4258,LENEP,DCST1-AS1,EFNA4,EFNA3,EFNA1,SLC50A1,HMGN2P18,TRIM46,MIR92B,MTX1,MTX1P1,SCAMP3,PKLR,RUSC1,MIR555,RNU6-106P,ASH1L-IT1,RNU6-1297P,POU5F1P4,TPM3,C1orf189,UBAP2L,ATP8B2,IL6R,SHE,UBE2Q1,ADAR,PYGO2,CKS1B,FLAD1,ZBTB7B,DCST2,DCST1,DPM3,KRTCAP2,THBS3,GBAP1,GBA,FAM189B,CLK2,HCN3,IL6R-AS1,TDRD10,KCNN3,PMVK,ADAM15,FDPS,RUSC1-AS1,ASH1L,NUP210L,MUC1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002379
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
CHRNB2,PBXIP1,SHC1,MIR4258,LENEP,DCST1-AS1,EFNA4,EFNA3,EFNA1,SLC50A1,HMGN2P18,TRIM46,MIR92B,MTX1,MTX1P1,SCAMP3,PKLR,ADAR,PYGO2,CKS1B,FLAD1,ZBTB7B,DCST2,DCST1,DPM3,KRTCAP2,THBS3,GBAP1,GBA,FAM189B,CLK2,HCN3,KCNN3,PMVK,ADAM15,MUC1
Controls
No Control Data Available
No Animal Model Data Available