9q21.11-q21.13CNV Type: Deletion
Largest CNV size: 6800000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A de novo 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
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
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
6800000
1
0
1
krumm_15_ASD_discovery_cases
Probands from the Simons Simplex Collection
2377
Diagnosis of ASD
N/A
N/A
3931398
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
krumm_15_ASD_discovery_controls
Unaffected siblings from quad families from the Simons Simplex Collection
1786
Control
N/A
N/A
0
0
0
0
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
krumm_15_ASD_discovery_cases
N/A
WES
CoNIFER, XHMM
Solid phase hybridization (Illumina 1M, 1 M Duo, or Omni 2.5)
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
krumm_15_ASD_discovery_controls
N/A
WES
CoNIFER, XHMM
None
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-case8
15 yrs.
F
Developmental delay/intellectual disability
Referred to genetic service at 11 years with intellectual disabiity, features of ASD and dysmorphism. DECIPHER ID: 257363. Autistic behavior: yes. Behavioral problems/hyperactivity: no. Developmental retardation: yes (global developmental delay in infancy; walked at 2 years). Speech disorder/speech delay: yes (significant expressive language delay, only able to understand 1-2 step commands). Epilepsy/seizures: yes (mixed seizure disorder characterized by generalized tonic-clonic, absence and myoclonic seizures at 13 years [seizures well controlled by sodium valproate], abnormal EEG). Hypotonia: yes (history of hypotonia). Brain MRI: normal. Height-weight delay: yes (height and weight both -2 SD). Facial dysmorphisms: yes (elongated face with prominent chin, hypertelorism, down-slanting palpebral fissures, narrow highly arched palate. Ocular abnormalities: no. Cardiac abnormalities: no. Skeletal malformations: yes (short broad hands with mild tapering of distal phalanges, mild thoracolumbar scoliosis). Hypertrichosis: no. Sleep disturbances: sleep difficulties. Birth parameters: born at term; height (cm), N/A; weight (g), 3500; head circumference (cm), N/A; Apgar, 8 and 10. Prenatal abnormalities: none (unremarkable perinatal history). Family history: unremarkable.
Developmental delay, moderate-severe intellectual disability; no formal IQ assessment.
68410280
75192224
6781945
GRCh38
Deletion
Yes
krumm_15_ASD_discovery_cases-case14254.p1
N/A
Male
ASD
Proband from the Simons Simplex Collection (SSC). Family type: Quad
69238709
73170107
3931399
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
boudry-labis_12_DD/ID_discovery_cases-case8
Karyotyping
De novo
Unknown
Unknown (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,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,TJP2,SMC5-AS1,TRPM3,ZFAND5
krumm_15_ASD_discovery_cases-case14254.p1
Omni2.5-4v1
De novo
Simplex
Segregated
C9orf135-DT,RN7SL570P,RNU2-5P,RPL24P8,RN7SL726P,MIR204,PIGUP1,RPL35AP21,HSPB1P1,BTF3P4,RNA5SP285,RPS20P24,RPS27AP15,LINC01474,BANCR,SMC5,ABHD17B,C9orf57,LINC01504,CYP1D1P,ANXA1,FAM189A2,APBA1,PTAR1,C9orf135,MAMDC2-AS1,MAMDC2,KLF9,CEMIP2,C9orf85,GDA,TMC1,ALDH1A1,TJP2,SMC5-AS1,TRPM3,ZFAND5
Controls
No Control Data Available
No Animal Model Data Available