3q26.31-qterCNV Type: Duplication
Largest CNV size: 24920000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A 24.9 Mb mosaic duplication, which includes the NLGN1 gene among others, was detected in an autistic male with mild intellectual disability.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Molecular cytogenetic characterisation of a mosaic add(12)(p13.3) with an inv dup(3)(q26.31 --> qter) detected in an autistic boy.
Duplication
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
carreira_09_ASD_discovery_cases
Autistic male, first born of non-consanguineous healthy parents
1
Diagnosis of autism based on ADI-R and DSM-IV criteria
NA (adult)
Male
24920000
0
1
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
carreira_09_ASD_discovery_cases-case1
NA (adult)
M
Autism
Diagnosis of autism based on ADI-R and DSM-IV criteria. Birth/neonatal history: delivered at term after uneventful pregnancy; birth weight <5th %ile; no major neonatal problems, except for surgically corrected club foot. Developmental milestones: developmental delay noted soon after birth. Adatpive behavior (at 11 years of age): age equivalence of 30 month age level. Vineland Adaptive Behaviour Scales (as adult): communication domain score, 30; daily living skills domain score, 59; socialization domain score, 63. Epilepsy/seizures: fever convlusions observed between the age of 9 and 24 months old. Dysmorphic features: low set and slightly enlarged ears, high and arched palate, round face. Growth parameters (at 11 years of age): height, 25th-50th %ile; weight, 90th %ile; head circumference, 50th %ile. Family history: non-consanguineous healthy parents with normal karyotype. Patient karyotype: mos 46,XY,add12(p13.3).ish inv dup(3)(qter q26.3::q26.3 qter)(wcp3+,pcp3q+,D3S4560++) [56]/46,XY
Non-verbal IQ: 61 (at 11 years of age; indicative of mild developmental delay/intellectual disability)
174370000
199290000
24920000
Unknown
Mosaic duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
carreira_09_ASD_discovery_cases-case1
mulitcolor banding (MCB) analysis, aCGH (BACs aCGH)
Unknown (likely de novo)
Simplex
Likely segregated
NLGN1,NAALADL2,TBL1XR1,KCNMB2,ZMAT3,PIK3CA,KCNMB3,ZNF639,MFN1,GNB4,ACTL6A,MRPL47,NDUFB5,USP13,PEX5L,TTC14,CCDC39,FXR1,DNAJC19,SOX2,ATP11B,DCUN1D1,MCCC1,LAMP3,MCF2L2,B3GNT5,KLHL6,KLHL24,YEATS2,MAP6D1,PARL,ABCC5,HTR3D,HTR3C,HTR3E,EIF2B5,DVL3,AP2M1,ABCF3,VWA5B2,ALG3,ECE2,CAMK2N2,PSMD2,EIF4G1,FAM131A,CLCN2,POLR2H,THPO,CHRD,EPHB3,MAGEF1,VPS8,C3orf70,EHHADH,MAP3K13,TMEM41A,LIPH,SENP2,IGF2BP2,TRA2B,ETV5,DGKG,CRYGS,TBCCD1,DNAJB11,AHSG,FETUB,HRG,KNG1,EIF4A2,RFC4,ADIPOQ,ST6GAL1,RPL39L,RTP1,MASP1,RTP4,SST,RTP2,BCL6,LPP,TPRG1,TP63,LEPREL1,CLDN1,CLDN16,TMEM207,IL1RAP,GMNC,OSTN,UTS2D,CCDC50,PYDC2,FGF12,MB21D2,HRASLS,ATP13A5,ATP13A4,OPA1,HES1,CPN2,LRRC15,GP5,ATP13A3,TMEM44,LSG1,FAM43A,XXYLT1,ACAP2,PPP1R2,APOD,MUC20,MUC4,TNK2,TFRC,ZDHHC19,OSTalpha,PCYT1A,TCTEX1D2,TM4SF19,UBXN7,RNF168,C3orf43,WDR53,FBXO45,LRRC33,CEP19,PIGX,PAK2,SENP5,NCBP2,PIGZ,MFI2,DLG1,BDH1,KIAA0226,FYTTD1,LRCH3,IQCG,RPL35A,LMLN
Controls
No Control Data Available
No Animal Model Data Available