9q21.13-q21.32CNV Type: N/A
Largest CNV size: 8989975 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
Paternally-inherited CNV identified in a case with developmental delay/intellectual disability (Girirajan et al., 2012)
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
NA
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
11000000
1
0
1
girirajan_12_ASD/DD/ID_discovery_cases
Samples from affected children submitted to Signature Genomic Laboratories from 2008-2010.
32587
Developmental delay with or without congenital malformations
8989975
NA
NA
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
girirajan_12_ASD/DD/ID_discovery_controls
Persons found to have no overt neurological disorders during screening for other studies
8329
Control
8989975
NA
NA
NA
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
girirajan_12_ASD/DD/ID_discovery_cases
aCGH
BACs aCGH, SignatureChipOS
FISH, aCGH, or confirmation by inheritance
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
girirajan_12_ASD/DD/ID_discovery_controls
aCGH
BACs ACGH (SignatureChipoWG) or oligoarray (SignatureChipOS)
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-case6
6 yrs.
F
Developmental delay/intellectual disability and epilepsy
Referred to outpatient clinic for epilepsy, idiopathic mental retardation, and dysmorphism. DECIPHER ID: 250392. Autistic behavior: yes (not as responsive as other children of her age, difficulty holding eye contact, inadequate short-term eye contact). Behavioral problems/hyperactivity: yes (undirected playing behavior and age-inappropriate exploring behavior, short attention span, restlessness). Developmental retardation: yes (sitting at 7-8 months, walking at 18 months, problems with swallowing and chewing). Speech disorder/speech delay: yes (first words spoken at 3.5-4 years). Motor evaluation: reduced fine motor coordination, symmetric movements, awkward running. Epilepsy/seizures: yes (febrile generalized tonic-clonic seizure at 3.5 yrs, since treatment with sodium valproate case was seizure-free; abnormal EEG). Hypotonia: no. Brain MRI: corpus callosum hypoplasia. Height-weight delay: no. Facial dysmorphisms: yes (bilateral epicanthi, small ears, expired philtrum, open mouth with hypersalivation,high palate, reduced motility of tongue. Ocular abnormalities: hyperopia, strabismus. Cardiac abnormalities: no. Skeletal malformations: no. Hypertrichosis: yes. Birth parameters: uneventful birth at 40 weeks; height (cm), 51; weight (g), 3640; head circumference (cm), 34; Apgar, 10/10; neonatal feeding and drinking problems. Prenatal abnormalities: none; ovarian cyst that required removal during pregnancy, no other complication.
Developmental delay/intellectual disability; IQ 50 (-2 SD)
71776556
82733925
10957370
GRCh38
Deletion
Yes
girirajan_12_ASD/DD/ID_discovery_cases-case42977
NA
M
Developmental delay
NA
NA
74000490
82990466
8989977
GRCh38
NA
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-case6
qPCR
De novo
Unknown
Unknown (possibly segregated)
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,RN7SKP59,MTND2P8,CHCHD2P9,NPAP1P6,LINC01507,NPAP1P4,MTCO1P51,MTND2P9,RPS19P6,RPS20P25,RNU6-1035P,RNA5SP287,SPATA31D5P,SPATA31D4,SPATA31D3,SPATA31D1,SPATA31B1P,DDX10P2,ABHD17B,C9orf57,LINC01504,CYP1D1P,ANXA1,RORB-AS1,CARNMT1,NMRK1,PSAT1,LNCARSR,SPATA31D2P,MTCO3P40,CEMIP2,C9orf85,GDA,TMC1,ALDH1A1,RORB,TRPM6,OSTF1,PCSK5,PRUNE2,PCA3,VPS13A,GNA14-AS1,GNAQ,CEP78,KRT18P24,TLE1,ZFAND5,GCNT1,GNA14,TLE4
girirajan_12_ASD/DD/ID_discovery_cases-case42977
FISH, aCGH, or confirmation by inheritance
Paternal (inversion carrier)
Unknown
Unknown
RN7SKP47,RPSAP75,RNU6-445P,C9orf40,RNU6-1228P,OTX2P1,RBM22P5,RFK,RPSAP9,PPIAP87,LYPLA2P3,FOXB2,ATP5MFP3,RFC5P1,VPS13A-AS1,NUTF2P3,RNU6-1303P,RN7SKP59,MTND2P8,CHCHD2P9,NPAP1P6,LINC01507,NPAP1P4,MTCO1P51,MTND2P9,RPS19P6,RPS20P25,RNU6-1035P,RNA5SP287,SPATA31D5P,SPATA31D4,SPATA31D3,SPATA31D1,SPATA31B1P,DDX10P2,RPS6P12,RORB-AS1,CARNMT1,NMRK1,PSAT1,LNCARSR,SPATA31D2P,MTCO3P40,RASEF,RORB,TRPM6,OSTF1,PCSK5,PRUNE2,PCA3,VPS13A,GNA14-AS1,GNAQ,CEP78,KRT18P24,TLE1,GCNT1,GNA14,TLE4
Controls
No Control Data Available
No Animal Model Data Available