3q12.2-q13.11CNV Type: Deletion
Largest CNV size: 4256273 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A maternally-inherited deletion within this region segregated with ASD/BAP in a multiplex family (Pinto et al., 2014).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
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
pinto_14_ASD_discovery_cases
ASD probands from simplex and multiplex families collected as part of stage 2 of the Autism Genome Project (AGP) after quality control (1,604 before QC)
1359
Cases classified according to ADOS and ADI-R
N/A
N/A
4256273
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
pinto_14_ASD_discovery_cases2-case20032_1226001
N/A
M
ASD
Autism on ADI-R and ADOS, no language delay but language testing at 7 y 2 mo gave scores significantly below overall IQ; no dysmorphic features, normal head circumference; sleep problems; no seizures. Affected brother 20032-1226021 also carries the deletion: delayed language, social difficulties but not clearly consistent with autism diagnosis; tested at age 3 y 1 m, doesn't meet criteria for autism on ADI-R (social 12, non-verbal communication 6, repetitive behavior 1, age abnormality 5) or ADOS (module 1, communication 3, social 3). Differential Ability Scales NVIQ 86, FSIQ 72. No dysmorphic features, normal head circumference and height; odd gait, poor balance; sleep problems; no seizures. Mother took fluoxetine and valproate during pregnancy. Affected sister 20032-1226022 also carries the deletion; tested at 5 y 2 mo, doesn't meet criteria for autism on ADI-R (social 9, communication 4, repetitive behavior 7, age abnormality 2) or ADOS (social 1, communication 0). Differential Ability Scales VIQ 94, NVIQ 101, FSIQ 95. No dysmorphic features, normal head circumference; sleep problems; no seizures. Mother took fluoxetine during pregnancy. Mother: ADHD, anxiety and depression. Adult SRS total 51; normal IQ (102); facial tics, apparent auditory processing difficulties; reported spelling learning disabilities; severe constipation. Mother reported family history of depression on both sides of her family, and maternal family history of OCD.
Low-average IQ (83)
100653027
104909299
4256273
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
pinto_14_ASD_discovery_cases2-case20032_1226001
qPCR
Possibly maternal
Maternal
Multiplex
Segregated [deletion present in affected brother (20032_1226021) and affected sister (20032_122602), both with broad autism spectrum]
GMFBP1,RNU6-865P,ACTR3P3,ZNF90P1,FAM172BP,RNU6-1256P,RNY1P12,RPL24,PDCL3P4,RNU6-461P,RNU1-43P,NDUFA4P2,MIR548AB,TUBBP11,RAP1BP2,TFG,TRMT10C,ZBTB11,ZBTB11-AS1,CEP97,NXPE3,ABI3BP,IMPG2,SENP7,PCNP,NFKBIZ,LINC02085,ZPLD1,ADGRG7
Controls
No Control Data Available
No Animal Model Data Available