9p13.3-p13.1CNV Type: Deletion
Largest CNV size: 5300000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
De novo deletions within this region were identified in two unrelated male cases with learning disability (Roberts et al., 2013).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Chromosomal microarray analysis of consecutive individuals with autism spectrum disorders or learning disability presenting for genetic services.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Delineation of a novel neurodevelopmental syndrome associated with PAX5 haploinsufficiency
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gofin_22_ASD/DD/ID_discovery_cases
Individual with a de novo 9p13.3-p13.1 deletion affecting the PAX5 gene
1
Case diagnosed with autism spectrum disorder and presented with developmental delay, severe intellectual disability, and seizures
17 yrs.
Male
3004259
1
0
1
roberts_13_ASD/DD/ID_discovery_cases
Consecutive patients referred with either ASD or learning disability for genetic services at the University of Kansas Medical Center from 2009-2012
215
ASD (n=65) or learning disability (LD; n=150); learning disability defined as developmental delay (infants & children) and/or intellectual disability (older children & adults)
Mean, 10 9.7 yrs.; Range 5 mos.-52 yrs.
65.12% Male
5300000
2
0
2
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gofin_22_ASD/DD/ID_discovery_cases
Hispanic
CMA
NA
roberts_13_ASD/DD/ID_discovery_cases
N/A
aCGH
105K or 180K oligonucleotide microarray
Nexus Copy Number (BioDiscovery)
BACs aCGH or FISH
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
gofin_22_ASD/DD/ID_discovery_cases-case4
17 yrs.
M
ASD, developmental delay, intellectual disability, and seizures
Birth/neonatal history: uncomplicated pregnancy, born at term, normal Apgar scores. Developmental milestones: developmental delay, delayed ability to sit (1 year), delayed ability to walk (3 years). Language and communicatione evaluation: absent speech. Motor and musculoskeletal evaluation: broad-based gait. Behavioral/psychiatric evaluation: diagnosis of severe autism spectrum disorder, marked self-stimulatory behaviors (singing, humming to himself), noted to be "in his own world", sleep disturbance. Epilepsy/seizures: generalized seizures. Family history: both parents with mild learning disabilities.
Severe intellectual disability
36088565
39092823
3004259
GRCh38
Deletion
No
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase11
3 yrs.
M
Learning disability (developmental delay/intellectual disability)
No reported clinical features
33404670
38469161
5064492
GRCh38
Deletion
Yes
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase12
6 yrs.
M
Learning disability (developmental delay/intellectual disability)
Dysmorphism
33531702
38791175
5259474
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
gofin_22_ASD/DD/ID_discovery_cases-case4
De novo
CCIN,ALDH1B1,CLTA,FBXO10,EXOSC3,DCAF10,POLR1E,CNTNAP3,ZCCHC7,SLC25A51,GLIPR2,RNF38,TRMT10B,FAM201A,ANKRD18A,TCEA1P3,IGFBPL1,RAB1C,TOMM5,FAM220BP,YWHABP1,HMGB3P24,KCTD9P3,VN2R3P,PAICSP1,RPL32P21,ARMC8P1,PAX5,TMX2P1,FAM95C,VN1R48P,SNX18P3,EBLN3P,MIR4540,MIR4475,MIR4476,GAS2L1P1,LINC01627,RNU7-124P,SHB,RNU4-53P,RNU6-765P,CHCHD4P3,RN7SKP171,RNU6-677P,LINC01400,FAM240B,RECK,MELK,GRHPR,GNE,ZBTB5,FRMPD1
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase11
BACs aCGH or FISH
De novo
Unknown
Unknown
AQP3,MIR6851,SNX18P7,PRSS3P4,TRBV20OR9-2,ANXA2P2,TRBV21OR9-2,TRBV22OR9-2,TRBV23OR9-2,TRBV24OR9-2,TRBV25OR9-2,PTENP1,TRBV26OR9-2,TRBV29OR9-2,RNU4ATAC11P,SNORD121B,SNORD121A,OSTCP8,RN7SKP114,TUBB4BP2,RNA5SP282,RNU2-50P,SERPINH1P1,RN7SKP24,RPP25L,ARID3C,GALT,CCL27,CCL19,CCL21,FAM205A,FAM205C,GLULP4,YWHAZP6,DNAJB5-DT,SYF2P2,RN7SL338P,STOML2,ZFAND6P1,RPL36AP33,FAM166B,RPS29P17,TESK1,MIR4667,SIT1,RMRP,CCDC107,RN7SL22P,CA9,MIR6852,MIR6853,GBA2,MSMP,SPAG8,HINT2,FAM221B,OR13E1P,OR13J1,NDUFA5P4,HRCT1,PGAM1P2,OR2S2,YBX1P10,OR13C6P,OR13C7,OR2AM1P,CCIN,RNU4-53P,HMGB3P24,MIR4475,MIR4540,MIR4476,LINC01400,EBLN3P,RNU6-677P,LINC01627,GRHPR,CHCHD4P3,KCTD9P3,RAB1C,RN7SKP171,PAICSP1,TMX2P1,RNU7-124P,ALDH1B1,NOL6,SUGT1P1,CYP4F26P,LINC01251,PRSS3,UBE2R2,DCAF12,KIF24,MYORG,C9orf24,FAM219A,ENHO,CNTFR,CNTFR-AS1,DCTN3,SIGMAR1,IL11RA,FAM205BP,PHF24,C9orf131,VCP,FANCG,PIGO,FAM214B,ATP8B5P,CD72,ARHGEF39,TPM2,TLN1,CREB3,RGP1,NPR2,TMEM8B,OR2S1P,GLIPR2,CLTA,GNE,MELK,ZBTB5,FBXO10,TOMM5,FRMPD1,TRMT10B,EXOSC3,DCAF10,IGFBPL1,ARMC8P1,PTENP1-AS,UBE2R2-AS1,UBAP2,UBAP1,NUDT2,DNAI1,DNAJB5,UNC13B,RUSC2,SPAAR,RECK,RNF38,PAX5,ZCCHC7,POLR1E,SLC25A51,SHB,ANKRD18B
roberts_13_ASD/DD/ID_discovery_cases-DD/IDcase12
BACs aCGH or FISH
De novo
Unknown
Unknown
SNX18P7,PRSS3P4,TRBV20OR9-2,ANXA2P2,TRBV21OR9-2,TRBV22OR9-2,TRBV23OR9-2,TRBV24OR9-2,TRBV25OR9-2,PTENP1,TRBV26OR9-2,TRBV29OR9-2,RNU4ATAC11P,SNORD121B,SNORD121A,OSTCP8,RN7SKP114,TUBB4BP2,RNA5SP282,RNU2-50P,SERPINH1P1,RN7SKP24,RPP25L,ARID3C,GALT,CCL27,CCL19,CCL21,FAM205A,FAM205C,GLULP4,YWHAZP6,DNAJB5-DT,SYF2P2,RN7SL338P,STOML2,ZFAND6P1,RPL36AP33,FAM166B,RPS29P17,TESK1,MIR4667,SIT1,RMRP,CCDC107,RN7SL22P,CA9,MIR6852,MIR6853,GBA2,MSMP,SPAG8,HINT2,FAM221B,OR13E1P,OR13J1,NDUFA5P4,HRCT1,PGAM1P2,OR2S2,YBX1P10,OR13C6P,OR13C7,OR2AM1P,CCIN,RNU4-53P,HMGB3P24,MIR4475,MIR4540,MIR4476,LINC01400,EBLN3P,RNU6-677P,LINC01627,GRHPR,CHCHD4P3,KCTD9P3,RAB1C,RN7SKP171,PAICSP1,TMX2P1,RNU7-124P,ALDH1B1,TCEA1P3,GAS2L1P1,VN1R48P,FAM220BP,FAM201A,YWHABP1,RNU6-765P,CYP4F26P,LINC01251,PRSS3,UBE2R2,DCAF12,KIF24,MYORG,C9orf24,FAM219A,ENHO,CNTFR,CNTFR-AS1,DCTN3,SIGMAR1,IL11RA,FAM205BP,PHF24,C9orf131,VCP,FANCG,PIGO,FAM214B,ATP8B5P,CD72,ARHGEF39,TPM2,TLN1,CREB3,RGP1,NPR2,TMEM8B,OR2S1P,GLIPR2,CLTA,GNE,MELK,ZBTB5,FBXO10,TOMM5,FRMPD1,TRMT10B,EXOSC3,DCAF10,IGFBPL1,ARMC8P1,FAM95C,SNX18P3,ANKRD18A,FAM240B,PTENP1-AS,UBE2R2-AS1,UBAP2,UBAP1,NUDT2,DNAI1,DNAJB5,UNC13B,RUSC2,SPAAR,RECK,RNF38,PAX5,ZCCHC7,POLR1E,SLC25A51,SHB,ANKRD18B
Controls
No Control Data Available
No Animal Model Data Available