9q21.11-q21.2CNV Type: Deletion
Largest CNV size: 7100000 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
A deletion involving this region was identified in a patient with developmental delay/intellectual disability and autistic behavior (Boudry-Labis et al., 2012).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A novel microdeletion syndrome at 9q21.13 characterised by mental retardation, speech delay, epilepsy and characteristic facial features.
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
boudry-labis_12_DD/ID_discovery_cases
Nine patients with 9q21 deletions not previously reported in DECIPHER database
9
Developmental delay/intellectual disability in all 9 cases, autistic behavior in 7/9 cases (diagnosis of ASD in one case), epilepsy/seizures in 7/9 cases.
Range, 2-16 yrs.
77.78% Male
7100000
1
0
1
hnoonual_17_ASD_discovery_cases
Cohort of 114 Thai ASD probands (68 retrospective ASD cases with the use of chromosomal microarray/CMA as a second line test; 46 prospective ASD and developmental delay cases with the use of CMA as the first-tier test)
114
68 cases with non-syndromic ASD (61 of which also presented with intellectual disability) were diagnosed with ASD based on meeting DSM-IV criteria for ASD, whereas an additional 46 prospective ASD and DD cases were given a clinical diagnosis of ASD based on DSM-5 criteria.
Range, 1-18 years (at time of recruitment)
79.82% Male
7880000
1
0
1
kim_18_DD/ID_discovery_cases
Individuals who had visited Konyang University Hospital for evaluation of unexplained DD/ID in a one year period (September 2013-October 2014)
50
All cases presented with developmental delay/intellectual disability (DD/ID); 19 cases (38.0 %) presented with epilepsy, 9 cases (18.0%) presented with autism
Mean age, 5.4 5.9 yrs. (Range, 0.1-32 yrs.)
52.0% Male
9400000
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
8300000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
boudry-labis_12_DD/ID_discovery_cases
NA
aCGH, array SNP
Agilent 44K, Agilent 180K ISCA design, Agilent 180K, Agilent 105K, Affymetrix 6.0, Affymetrix 2.7M
FISH, qPCR, MLPA, karyotyping
hnoonual_17_ASD_discovery_cases
Thai
Solid phase hybridization
Illumina Infinium CytoSNP-850K v1.1 BeadChip
BlueFuse Multi v4.3, GenomeStudio Data Analysis v.2011.1
None
kim_18_DD/ID_discovery_cases
Korean
Array SNP
Affymetrix CytoScan 750K
Affymetrix ChAS
None
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
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
boudry-labis_12_DD/ID_discovery_cases-case3
15 yrs.
M
Developmental delay/intellectual disability
DECIPHER ID: 254973. Autistic behavior: yes. Behavioral problems/hyperactivity: yes. Developmental retardation: yes (psychomotor delay and language delay). Speech disorder/speech delay: yes. Epilepsy/seizures: yes (absences developed at 5 years). Hypotonia: N/A. Brain MRI: normal. Height-weight delay: yes (height -3 SD, weight -2.5 SD, head circumference 2 SD). Facial dysmorphisms: yes (bilateral epicanthi, slightly upslanting palpebral fissures, thin upper lip). Ocular abnormalities:N/A. Cardiac abnormalities: N/A. Skeletal malformations: N/A (wrist and small joint hypermobility). Hypertrichosis: no. Birth parameters: height (cm), 51; weight (g), 3570; head circumference (cm), 34; Apgar, 10. Prenatal abnormalities: none. Karyotype: t(1;16)(p31.3;q21)mat.
Developmental delay, moderate intellectual disability; Denver Developmental Screening Test (DDST) performed at 7 years of age: developmental equivalent of 14 months.
69568039
76697390
7129352
GRCh38
Deletion
Yes
hnoonual_17_ASD_discovery_cases-case2715
N/A
M
ASD and intellectual disability
Dysmorphic features, seizures
Intellectual disability
69451730
77334068
7882339
GRCh38
Deletion
No
kim_18_DD/ID_discovery_cases-case9
8 yrs. 10 mos.
F
Developmental delay/intellectual disability and epilepsy
Dysmorphic features, epilepsy, failure to thrive, microcephaly
Developmental delay/intellectual disability
68351345
77707371
9356027
GRCh38
Deletion
No
maini_18_ASD/DD/ID_discovery_cases-case51
6 yrs.
F
Language delay
Birth history: born at 41 weeks gestation following a pregnancy marked by pre-perinatal distress. Developmental milestones: language delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Dysmorphic features: long eyelashes, smooth philtrum, thick lips, tented upper lip, everted lower lip, arched palate, protruding upper central incisors, ears with thick helices and uplifted lobes. Growth parameters: normal head circumference, normal growth. Family history: negative for consanguineity, negative for familiarity, family history negative for NDDs.
Mild intellectual disability
68420430
76751538
8331109
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
boudry-labis_12_DD/ID_discovery_cases-case3
qPCR
Unknown
Unknown
Unknown
C9orf135-DT,RN7SL570P,RNU2-5P,RPL24P8,RN7SL726P,MIR204,PIGUP1,RPL35AP21,HSPB1P1,BTF3P4,RNA5SP285,RPS20P24,RPS27AP15,LINC01474,DPP3P2,RNA5SP286,RN7SKP47,RPSAP75,RNU6-445P,C9orf40,RNU6-1228P,OTX2P1,RBM22P5,RFK,RPSAP9,PPIAP87,SMC5,ABHD17B,C9orf57,LINC01504,CYP1D1P,ANXA1,RORB-AS1,CARNMT1,NMRK1,APBA1,PTAR1,C9orf135,MAMDC2-AS1,MAMDC2,KLF9,CEMIP2,C9orf85,GDA,TMC1,ALDH1A1,RORB,TRPM6,OSTF1,PCSK5,PRUNE2,PCA3,SMC5-AS1,TRPM3,ZFAND5,GCNT1
hnoonual_17_ASD_discovery_cases-case2715
De novo
C9orf135-DT,RN7SL570P,RNU2-5P,RPL24P8,RN7SL726P,MIR204,PIGUP1,RPL35AP21,HSPB1P1,BTF3P4,RNA5SP285,RPS20P24,RPS27AP15,LINC01474,DPP3P2,RNA5SP286,RN7SKP47,RPSAP75,RNU6-445P,C9orf40,RNU6-1228P,OTX2P1,RBM22P5,RFK,RPSAP9,PPIAP87,LYPLA2P3,FOXB2,ATP5MFP3,RFC5P1,VPS13A-AS1,SMC5,ABHD17B,C9orf57,LINC01504,CYP1D1P,ANXA1,RORB-AS1,CARNMT1,NMRK1,APBA1,PTAR1,C9orf135,MAMDC2-AS1,MAMDC2,KLF9,CEMIP2,C9orf85,GDA,TMC1,ALDH1A1,RORB,TRPM6,OSTF1,PCSK5,PRUNE2,PCA3,VPS13A,SMC5-AS1,TRPM3,ZFAND5,GCNT1
kim_18_DD/ID_discovery_cases-case9
Unknown
PGM5-AS1,TMEM252,LINC01506,FAM122A,RNU6-820P,PRKACG,C9orf135-DT,RN7SL570P,RNU2-5P,RPL24P8,RN7SL726P,MIR204,PIGUP1,RPL35AP21,HSPB1P1,BTF3P4,RNA5SP285,RPS20P24,RPS27AP15,LINC01474,DPP3P2,RNA5SP286,RN7SKP47,RPSAP75,RNU6-445P,C9orf40,RNU6-1228P,OTX2P1,RBM22P5,RFK,RPSAP9,PPIAP87,LYPLA2P3,FOXB2,ATP5MFP3,RFC5P1,VPS13A-AS1,NUTF2P3,RNU6-1303P,BANCR,SMC5,ABHD17B,C9orf57,LINC01504,CYP1D1P,ANXA1,RORB-AS1,CARNMT1,NMRK1,PGM5,PIP5K1B,FXN,FAM189A2,APBA1,PTAR1,C9orf135,MAMDC2-AS1,MAMDC2,KLF9,CEMIP2,C9orf85,GDA,TMC1,ALDH1A1,RORB,TRPM6,OSTF1,PCSK5,PRUNE2,PCA3,VPS13A,GNA14-AS1,TJP2,SMC5-AS1,TRPM3,ZFAND5,GCNT1,GNA14
maini_18_ASD/DD/ID_discovery_cases-case51
De novo
Simplex
Possibly segregated
TMEM252,LINC01506,FAM122A,RNU6-820P,PRKACG,C9orf135-DT,RN7SL570P,RNU2-5P,RPL24P8,RN7SL726P,MIR204,PIGUP1,RPL35AP21,HSPB1P1,BTF3P4,RNA5SP285,RPS20P24,RPS27AP15,LINC01474,DPP3P2,RNA5SP286,RN7SKP47,RPSAP75,RNU6-445P,C9orf40,RNU6-1228P,OTX2P1,RBM22P5,RFK,RPSAP9,PPIAP87,BANCR,SMC5,ABHD17B,C9orf57,LINC01504,CYP1D1P,ANXA1,RORB-AS1,CARNMT1,NMRK1,PGM5,PIP5K1B,FXN,FAM189A2,APBA1,PTAR1,C9orf135,MAMDC2-AS1,MAMDC2,KLF9,CEMIP2,C9orf85,GDA,TMC1,ALDH1A1,RORB,TRPM6,OSTF1,PCSK5,PRUNE2,PCA3,TJP2,SMC5-AS1,TRPM3,ZFAND5,GCNT1
Controls
No Control Data Available
No Animal Model Data Available