12q11-q13.11CNV Type: Duplication
Largest CNV size: 9077378 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A paternally-inherited 9 Mb duplication of this region was identified in a male monozygotic twin pair concordant for ASD and ADHD (Stamouli et al., 2018).
Additional Locus Information
References
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
stamouli_18_ASD/NDD_discovery_cases
Affected individuals from 100 twin pairs (69 monozygotic, 31 dizygotic), corresponding to 97 families, that were enriched for neurodevelopmental disorders from the Roots of Autism and ADHD Study in Sweden (RATSS)
100 twin pairs
Diagnoses based on DSM-5 criteria following evaluation using standard diagnostic tools [a psychosocial and anamnestic interview, the Autism Diagnosis Interview-Revised (ADI-R), the Autism Diagnostic Observation Schedule Second Edition (ADOS-2), the Kiddie Schedule for Affective Disorders and Schizophrenia (K-SADS), or the Diagnostic Interview for ADHD in Adults (DIVA)]; Wechsler Intelligence Scale for Children or Adults, Fourth Edition (WISC-IV) or the Leiter-revised scales in combination with the Peabody Picture Vocabulary Test, Third Edition, and the parent-based Adaptive Behavior Assessment Scale, 2nd Edition (ABAS-2) were also used to evaluate adaptive, cognitive, and verbal abilities an
N/A
N/A
9077378
0
2
2
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
stamouli_18_ASD/NDD_discovery_cases-family12_Twin_1
N/A
M
ASD and ADHD
Case is from a monozygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group (Male monozygotic twin pair concordant for ASD and ADHD)
37601562
46678958
9077397
GRCh38
Duplication
Yes
stamouli_18_ASD/NDD_discovery_cases-family12_Twin_2
N/A
M
ASD and ADHD
Case is from a monozygotic twin pair from the Concordant ASD/Concordant NDD diagnostic group (Male monozygotic twin pair concordant for ASD and ADHD)
37601562
46678958
9077397
GRCh38
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
stamouli_18_ASD/NDD_discovery_cases-family12_Twin_1
qPCR
Paternal
Multiplex
Segregated (CNV present in both affected twins)
AK6P2,CLUHP8,RNA5SP358,RNA5SP359,TUBB8P5,NF1P12,CPNE8-AS1,RPL30P13,LINC02555,RNU6-713P,RNA5SP360,MTND2P17,MTND1P24,LINC02400,MIR7851,RNU6-249P,RPS27P21,MRPS36P5,EEF1A1P17,ZNF75BP,RACGAP1P,RNA5SP361,RN7SL246P,KNOP1P2,OR7A19P,ALG10B,LINC02406,LINC02471,GXYLT1,ZCRB1,LINC02402,LINC02451,LINC02450,LINC02461,PUS7L,TWF1,DBX2,PLEKHA8P1,SCAF11,SLC38A2,KIF21A,ABCD2,LRRK2,MUC19,PDZRN4,YAF2,PPHLN1,PRICKLE1,ADAMTS20,IRAK4,NELL2,ANO6,ARID2,SLC38A1,CPNE8,C12orf40,SLC2A13,CNTN1,TMEM117
stamouli_18_ASD/NDD_discovery_cases-family12_Twin_2
qPCR
Paternal
Multiplex
Segregated (CNV present in both affected twins)
AK6P2,CLUHP8,RNA5SP358,RNA5SP359,TUBB8P5,NF1P12,CPNE8-AS1,RPL30P13,LINC02555,RNU6-713P,RNA5SP360,MTND2P17,MTND1P24,LINC02400,MIR7851,RNU6-249P,RPS27P21,MRPS36P5,EEF1A1P17,ZNF75BP,RACGAP1P,RNA5SP361,RN7SL246P,KNOP1P2,OR7A19P,ALG10B,LINC02406,LINC02471,GXYLT1,ZCRB1,LINC02402,LINC02451,LINC02450,LINC02461,PUS7L,TWF1,DBX2,PLEKHA8P1,SCAF11,SLC38A2,KIF21A,ABCD2,LRRK2,MUC19,PDZRN4,YAF2,PPHLN1,PRICKLE1,ADAMTS20,IRAK4,NELL2,ANO6,ARID2,SLC38A1,CPNE8,C12orf40,SLC2A13,CNTN1,TMEM117
Controls
No Control Data Available
No Animal Model Data Available