17q21.31-q21.32CNV Type: Deletion
Largest CNV size: 353134 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
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion-Duplication
Use of array CGH to detect exonic copy number variants throughout the genome in autism families detects a novel deletion in TMLHE.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Rare deletions at the neurexin 3 locus in autism spectrum disorder.
Deletion-Duplication
Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures.
Deletion
Recurrent copy number variations as risk factors for Autism Spectrum Disorders: analysis of the clinical implications.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
celestino-soper_11_ASD_discovery_cases
ASD probands from Simons Simplex Collection (SSC) trios. 90 of the probands in this study were also used in the Sanders et al. 2011 CNV report.
99
ASD
87.88% Male
353134
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
986930
7
1
8
lionel_13_ASD/SCZ/EP_discovery_cases
Patient cohort composed of 1158 Canadian ASD patients, 72 Austrian ASD patients, 450 Canadian schizophrenia patients, and a clinical dataset of 3704 individuals with primary diagnosis of ASD and/or seizure disorder referred for clinical microarray testing at the Mayo Clinic cytogenetics laboratory.
5384
ASD (n=1230), schizophrenia (n=450), and ASD and/or seizure disorder (n=3704). Canadian and Austrian ASD patients met criteria for ASD diagnosis based on ADI-R and/or ADOS.
NA
NA
504390
2
0
2
oikonomakis_16_ASD_discovery_cases
ASD cases evaluated with chromosomal microarray (CMA) from 2008-2015
195
Cases assessed for ASD according to DSM-IV behavioral criteria
Range, 1-38 yrs.
64.61% Male
810000
2
0
2
vaags_11_ASD_discovery_cases
Discovery cohort of Canadian individuals with ASD
1158
ASD
NA
NA
350648
1
0
1
vaags_11_ASD_replication_cases_2
Replication cohort consisting of patients referred to the Mayo Clinic
1796
Autism or pervasive developmental disorder (PDD)
NA
NA
125896
0
1
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
celestino-soper_11_ASD_discovery_cases
aCGH
Agilent 1M
ADM-2
Agilent Feature Extraction v10.7.3.1, Agilent DNA Analytics v4.0.76
aCGH (Agilent 4x180K or 8x60K)
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
lionel_13_ASD/SCZ/EP_discovery_cases
NA
aCGH, array SNP
Agilent ISCA 44K, Agilent 180K, Affymetrix 6.0
Agilent DNA Analytics, Birdsuite, iPattern, Affymetrix Genotyping Console
None
oikonomakis_16_ASD_discovery_cases
Greece
aCGH
Agilent 244K, 4x180K, or 4x180K (SurePrint G3 arrays)
None
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
vaags_11_ASD_replication_cases_2
NA
aCGH
Agilent 44K & 244K
None
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
celestino-soper_11_ASD_discovery_cases-11353
NA
F
ASD
NA
NA
46351794
46704928
353135
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000302
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
45629520
46616917
987398
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000955
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46176989
46742963
565975
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000978
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46111075
46616917
505843
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000997
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46444391
46742963
298573
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001117
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46061147
46616917
555771
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001122
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46111075
46616917
505843
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001250
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
45629520
46616917
987398
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003810
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
46444391
46990403
546013
GRCh38
Duplication
Yes
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
13 yrs.
F
ASD
Diagnosis of high-functioning ASD made following assessment at 13 years of age using ADOS and ADI-R. Birth/neonatal history: uncomplicated pregnancy; delivery at 38 weeks of gestation. Developmental milestones: walking at 12 months, otherwise had slow motor development and gait issues, which prompted ergotherapy; language delay with no speech at 2 yrs., followed by gradual speech development by 4 yrs. Language and communication evaluation: episodes of echolalia. Behavioral/psychiatric evaluation: up to 6 years of age, case continued to desire swaddling and had hypersensitivty to light and sound associated with self-injury (head banging, tearing hair). Dysmorphic features: none reported. Family history: non-consanguineous parents; no reported medical or neuropsychiatric conditions in parents or two older siblings.
Completed secondary school degree with exception of mathematics
46323701
46687628
363928
GRCh38
Deletion
No
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
24 yrs.
M
Schizophrenia
Diagnosis of chronic schizophrenia confirmed through use of detailed psychiatric assessment, including use of a modified version of Strructed Clinical Interviews for DSM-III-R for Axis I disorder. Developmental milestones: no evidence of developmental delay. Behavioral/psychiatric evaluation: increasing anxiety, preoccupation, and paranoia at 23 years (responded well ti a few months of treatment with chloropromazine); admitted to hospital for schizophrenia at 24 years of age; improved with electroconvulsive therapy and was discharged for two months; following two additional hospitalizations, case has been relatively stable on standard antipsychotic medication regiment with an adjuvant antidepressant for many years. no evidence of autistic features. Epilepsy/seizures: no history of seizures. Dysmorphic features: no significant dysmorphology. Family history: non-consanguineous parents; no known history of neuropsychiatric illness or seizures in parents or siblings; significant history of schizophrenia in paternal extended family.
Full Scale IQ of 92 (Wechsler Adult Intelligence Scale/WAIS) at 24 years of age.
46203331
46708316
504986
GRCh38
Deletion
No
oikonomakis_16_ASD_discovery_cases-case186
7 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: seizures, low set ears, bulbous nose, anteverted nares, thin upper lip, short philtrum, micrognathia, obesity
45956796
46547318
590523
GRCh38
Deletion
No
oikonomakis_16_ASD_discovery_cases-case32
15 yrs.
M
ASD
Case was assessed for ASD according to DSM-IV behavioral criteria. Clinical characteristics other than ASD: macrocephaly, narrow downslanting palpebral fissures, macrostomia, thin upper lip, large prominent ears, happy behavior, good communication skills
45898341
46709873
811533
GRCh38
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)
46323701
46674934
351234
GRCh38
Deletion
No
vaags_11_ASD_replication_cases_2-probandF4-003
3 yrs. 6 mos.
M
Autism
Diagnosis of autism based on clinical diagnosis, C-TRF (Caregiver-Teacher Report Form), and DSM-Oriented Scales for Boys (>97th %ile). Aggression, anger, anxiety, temper tantrums, social avoidance, sucking and biting of hands and fingers, sleep-onset disorder, upper-body hypotonia, thumb-flexion difficulty, oppositional defiance, previous head banging, and prior speech delay
Leiter-R IQ: incomplete (test attempted but proband failed to complete)
1118390
1181521
63132
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
celestino-soper_11_ASD_discovery_cases-11353
aCGH (Agilent 4x180K or 8x60K)
Inherited
Simplex
NA
RDM1P2,RN7SL199P,FAM215B,ARL17B,NSFP1,LRRC37A2,ARL17A,NSF
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000302
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPPL2C,MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,RN7SL656P,RDM1P2,RN7SL199P,FAM215B,LINC02210,CRHR1,ARL17B,LRRC37A,LINC02210-CRHR1,MAPT-AS1,MAPT,NSFP1,LRRC37A2,ARL17A,NSF,KANSL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000955
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KANSL1-AS1,MAPK8IP1P1,RN7SL656P,RDM1P2,RN7SL199P,FAM215B,RPS7P11,ARL17B,LRRC37A,NSFP1,LRRC37A2,ARL17A,NSF,KANSL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000978
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KANSL1-AS1,MAPK8IP1P1,RN7SL656P,RDM1P2,RN7SL199P,FAM215B,ARL17B,LRRC37A,NSFP1,LRRC37A2,ARL17A,NSF,KANSL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000997
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RDM1P2,RN7SL199P,FAM215B,RPS7P11,NSFP1,LRRC37A2,ARL17A,NSF
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001117
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KANSL1-AS1,MAPK8IP1P1,RN7SL656P,RDM1P2,RN7SL199P,FAM215B,ARL17B,LRRC37A,NSFP1,LRRC37A2,ARL17A,NSF,KANSL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001122
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
KANSL1-AS1,MAPK8IP1P1,RN7SL656P,RDM1P2,RN7SL199P,FAM215B,ARL17B,LRRC37A,NSFP1,LRRC37A2,ARL17A,NSF,KANSL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001250
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
SPPL2C,MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,RN7SL656P,RDM1P2,RN7SL199P,FAM215B,LINC02210,CRHR1,ARL17B,LRRC37A,LINC02210-CRHR1,MAPT-AS1,MAPT,NSFP1,LRRC37A2,ARL17A,NSF,KANSL1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00003810
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RDM1P2,RN7SL199P,FAM215B,RPS7P11,LINC01974,RNU6ATAC3P,MIR5089,RPRML,WNT9B,LRRC37A17P,NSFP1,LRRC37A2,ARL17A,NSF,WNT3,GOSR2
lionel_13_ASD/SCZ/EP_discovery_cases-proband1
Unknown
Simplex
Unknown
RDM1P2,RN7SL199P,FAM215B,ARL17B,LRRC37A,NSFP1,LRRC37A2,ARL17A,NSF
lionel_13_ASD/SCZ/EP_discovery_cases-proband5
Unknown
Simplex
Unknown
MAPK8IP1P1,RN7SL656P,RDM1P2,RN7SL199P,FAM215B,ARL17B,LRRC37A,NSFP1,LRRC37A2,ARL17A,NSF,KANSL1
oikonomakis_16_ASD_discovery_cases-case186
De novo
STH,KANSL1-AS1,MAPK8IP1P1,RN7SL656P,RDM1P2,RN7SL199P,ARL17B,LRRC37A,MAPT,NSFP1,LRRC37A2,ARL17A,KANSL1
oikonomakis_16_ASD_discovery_cases-case32
De novo
MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,RN7SL656P,RDM1P2,RN7SL199P,FAM215B,ARL17B,LRRC37A,MAPT,NSFP1,LRRC37A2,ARL17A,NSF,KANSL1
vaags_11_ASD_discovery_cases-probandF1-003
Unknown
Simplex
Unknown
RDM1P2,RN7SL199P,FAM215B,ARL17B,LRRC37A,NSFP1,LRRC37A2,ARL17A,NSF
vaags_11_ASD_replication_cases_2-probandF4-003
Unknown
Simplex
Unknown
Controls
No Control Data Available
No Animal Model Data Available