2p11.2-p11.1CNV Type: Duplication
Largest CNV size: 2244589 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A duplication in this region was identified in a male with Asperger syndrome.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Integrative Variation Analysis Reveals that a Complex Genotype May Specify Phenotype in Siblings with Syndromic Autism Spectrum Disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
reis_17_ASD/ID_discovery_cases
Two siblings (one male, one female) with syndromic ASD who participated in an ongoing exome research study at the Autism Spectrum Disorder Program Clinic of the Psychiatric Institute of the University of Sao Paulo School of Medicine
2
The male sibling met criteria for a diagnosis of ASD according to DSM-5 criteria (CARS score 33.5), while the female sibling was diagnosed with intellectual disability and syndromic features (CARS score 24.0)
Range, 29-33 yrs.
50% Male
2324423
0
1
1
sato_12_ASD_discovery_cases_1
Unrelated ASD cases from Canada (Hospital for Sick Children, McMaster University, Memorial University of Newfoundland, University of Alberta, and Montral Children's Hospital of McGill University Health Centre) and Europe (PARIS and specialized clincial centers in France, Sweden, Germany, Finland, and the UK).
1614
Diagnosis of ASD based on Autism Diagnostic Interview-Revised (ADI-R) and/or Autism Diagnostic Observation Schedule (ADOS). In some ASD cases from Sweden, the Diagnostic Interview for Social and Communication Disorders (DISCO-10) was applied instead of ADI-R.
NA
78.07% Male
2244589
0
1
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
reis_17_ASD/ID_discovery_cases
Brazil
aCGH
Agilent 180K
ADM-2
Agilent Feature Extraction 10.7.3.1
None
sato_12_ASD_discovery_cases_1
Canadian (n=1158) and European (n=456)
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Agilent SurePrint G3 Human CGH 1X1M, Illumina Human 1M-Duo BeadChip
DNA Analytics, CBS/DNAcopy, Birdsuite, iPattern, Genotyping Console, PennCNV, QuantiSNP, iPattern
None
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
reis_17_ASD/ID_discovery_cases-case2
29 yrs.
F
Intellectual disability
Birth/neonatal history: reported abdominal pain and vaginal bleeding during pregnancy; delivery by C-section; birth weight 4140 g, length 51 cm. Developmental milestones: first steps at 18 months of age, had not begun to produce speech until after 2 years of age. Language and communication evaluation: able to understand simple and some complex commands, uses imitation, verbal with simple sentences with substitutions (mostly "r" for "l"). Motor and musculoskeletal evaluation: large hands, clinodactyly, large feet, hypoplastic nails, kyphosis, exhibited some difficulty standing on one foot, gait was symmetric with large steps. Behavioral/psychiatric evaluation: CARS score of 24.0; presented eye contact and initiated interaction in an inappropriate form, quite puerlie with no functionality; psychomotor agitation (mainly in the mornings); occasionally aggressive, but affectionate and gentle most of the time; liked playing with other children; sometimes exhibited periods of inappropriate, hypersocial behavior and periods during which she could not stop talking; sleep difficulties. Dysmorphic features: macrocephaly, long face, low posterior hairline, arched eyebrows, long eyelashes, wide nasal bridge, thin lips, crowded teeth, low-set ears, malformed ears. Growth parameters: height of 183 cm, weight of 91.5 kg, OFC 59 cm. Karyotype: case has a paternally-inherited balanced translocation [der(8)t(4;8)(p16.3;p23.1). Family history: born to nonconsanguineous parents; no family history of ASD, other psychiatric disorders, intellectual disability, or malformations.
Diagnosed with intellectual disability in 1992
89142365
91578212
2435848
GRCh38
Duplication
No
sato_12_ASD_discovery_cases_1-family1caseIII-5
32 yrs.
M
Asperger
Diagnosis of Asperger disorder based on ADI-R and ADOS-4 at 25 years; initial diagnosis of PDD-NOS at 16 years (impairment in social communication, not enough repetitive stereotyped behaviors for diagnosis of autism or Asperger). Developmental milestones: engaged in repetitive paly and speech at 12-24 months; single words at 24 months, phrases by 36 months; no lost langauge or loss in other skills. Language and communication evaluation: normal language development; no history of echolalia, pronoun reversal, or neologisms. Behavioral/psychiatric evaluation: anxiety disorder (currently takes olanzapine and paroxetine); poor eye contact, persistent lack of social smile, facial affect, joint attention, and empathy. Additional genetic evaluation: nonsense mutation in PCDHGA11 gene that segregates with SHANK1 deletion. Family history: mother exhibited anxiety and shyness, but not considered to have ASD or BAP; sister with diagnosis of anxiety disorder and a generalized anxiety disorder (no evidence of ASD or BAP); sister has two children with ASD/Asperger; maternal grandfather with BAP.
Leiter-R brief non-verbal IQ of 83 (13th %ile, low average range). Adaptive behavior scores (as measured by Vineland Adaptive Behavior Scales/VABS-I): adaptive behavior composite score of 52 (<1st %ile); communication score of 43 (<1st %ile); daily living skills score of 63 (1st %ile); socialization score of 65 (1st %ile).
88833253
91606716
2773464
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
reis_17_ASD/ID_discovery_cases-case2
De novo
Multiplex
Not segregated
IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-40,IGKV2D-40,IGKV1D-39,IGKV2D-38,IGKV1D-37,IGKV2D-36,IGKV1D-35,IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV1D-8,IGKV3D-7,IGKV1OR2-118,IGKV2D-29,IGKV1D-43,IGKV1D-33
sato_12_ASD_discovery_cases_1-family1caseIII-5
Possibly maternal
Unknown
Simplex for ASD; multiplex for anxiety disorder
Unknown
IGKC,IGKJ5,IGKJ4,IGKJ3,IGKJ2,IGKJ1,IGKV4-1,IGKV5-2,IGKV7-3,PGBD4P5,IGKV1-5,IGKV1-6,IGKV3-7,IGKV1-8,IGKV1-9,IGKV2-10,IGKV3-11,IGKV1-12,IGKV1-13,IGKV2-14,IGKV3-15,IGKV1-16,IGKV1-17,IGKV2-19,IGKV3-20,IGKV6-21,IGKV1-22,IGKV2-23,IGKV2-24,IGKV3-25,IGKV2-26,IGKV1-27,IGKV2-28,IGKV2-29,IGKV2-30,IGKV3-31,IGKV1-32,IGKV1-33,IGKV3-34,IGKV1-35,IGKV2-36,IGKV1-37,IGKV2-38,IGKV1-39,IGKV2-40,IGKV2D-40,IGKV1D-39,IGKV2D-38,IGKV1D-37,IGKV2D-36,IGKV1D-35,IGKV3D-34,IGKV1D-32,IGKV3D-31,IGKV2D-30,IGKV2D-28,IGKV1D-27,IGKV2D-26,IGKV3D-25,IGKV2D-24,IGKV2D-23,IGKV1D-22,IGKV6D-21,IGKV3D-20,IGKV2D-19,IGKV2D-18,IGKV6D-41,IGKV1D-17,IGKV1D-16,IGKV3D-15,IGKV2D-14,IGKV1D-13,IGKV1D-12,IGKV3D-11,IGKV2D-10,IGKV1D-42,IGKV1D-8,IGKV3D-7,IGKV1OR2-118,IGKV2-4,IGKV2D-29,IGKV1D-43,IGKV1D-33,IGKV2-18
Controls
No Control Data Available
No Animal Model Data Available