9q34.11-q34.12CNV Type: Deletion
Largest CNV size: 2349000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.
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
campbell_12_ASD/EP/ID_discovery_cases
Unrelated children with variable clinical phenotypes found to have a 9q34.11 deletion as determined by aCGH.
10
All cases with intellectual disability (ranging from mild to profound), hypotonia, and speech impairment. 4 cases with epilepsy, 2 cases with ASD.
Range, 2-15 yrs.
60% Male
2349000
1
0
1
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
campbell_12_ASD/EP/ID_discovery_cases-case8
15 yrs.
M
Intellectual disability
Age at onset of epilepsy: NA. Epilepsy type: none. EEG: NA. MRI/CT: dysplastic corpus callosum and small pituitary. Neurological examination: hypotonia, dystonia. Ophthalmological abnormalities: none. Psychomotor regression: none. Speech impairment: mild. Other manifestations: mild dysmorphic features.
Moderate intellectual disability
128710419
131100279
2389861
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
campbell_12_ASD/EP/ID_discovery_cases-case8
FISH
Unknown
Unknown
Unknown
ZDHHC12,ENDOG,DOLK,IER5L,C9orf106,RN7SL159P,ASB6,PRRX2-AS1,UBE2V1P4,TOR1A,C9orf78,MIR6855,RN7SL665P,MIR6856,QRFP,ZER1,TBC1D13,SPOUT1,LRRC8A,PHYHD1,SH3GLB2,MIGA2,DOLPP1,PTPA,LINC01503,C9orf50,PRRX2,PTGES,TOR1B,USP20,GPR107,NCS1,ASS1,FUBP3,EXOSC2,FIBCD1,AIF1L,PKN3,KYAT1,CRAT,LINC00963,NTMT1,HMCN2,PRDM12,ABL1,NUP188,FNBP1,LAMC3
Controls
No Control Data Available
No Animal Model Data Available