3p22.1-p21.31CNV Type: Deletion
Largest CNV size: 2456000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A deletion within this loci was identified in an 8-year-old male proband presenting with Asperger syndrome (Iourov et al., 2015).
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
3p22.1p21.31 microdeletion identifies CCK as Asperger syndrome candidate gene and shows the way for therapeutic strategies in chromosome imbalances.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
iourov_15_ASD_discovery_cases
Only child of unrelated parents presenting with Asperger syndrome and a 3p22.1-p21.31 microdeletion
1
Diagnosis of Asperger syndrome (based on fulfillment of DSM-IV criteria)
8 yrs.
Male
2456000
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
iourov_15_ASD_discovery_cases-case1
8 yrs.
M
Asperger syndrome
Case met DSM-IV criteria for Asperger syndrome. Birth/neonatal history: born by C-section at 39 weeks after pregnancy marked by bleeding events during first trimester; neonatal measurements within normal limits (birth weight 3200 g, length 52 cm); prolonged period of neonatal jaundice and high muscle tone. Developmental milestones: delayed early motor milestones; good head control at age of 3 months, rolled over at 6 months, sat up at 8 months, began to stand at 9 months, started walking unsteadily without support at 15 months; first words at 11 months, used sentences and knew letters at 30 months; limited use of gestures. Motor and musculoskeletal evaluation: poor motor coordination until 5 years of age; clumsy at age of 8 years; motor stereotypic hand movements (shaking hands during agitation). Behavioral/psychiatric evaluation: impaired social interactions, lack of interest in peers (usually played at a distance from other children), phobia of communicating with people during mealtimes, rare direct eye gaze feedback, restricted interests (focused on computer); improved communication and reduced stereotypic movements following zinc glucontate administration. Additional medical history: suffered from seborrheic dermatitis (disappeared following zinc glucontate administration) and frequent respiratory infections; biliary diskinesia and chronic pancreatitis diagnosed by gastroenterologist (no further episodes of pancreatitis following zinc glucontate administration); mitral valve regurgiataion, nephrophtosis and myopia. Dysmorphic features: large ears, flattened midface, ocular hypertelorism. Growth parameters: height of 128 cm, head circumference of 53 cm; weight of 21.5 kg (10th %ile) and poor subcutaneous fat at age of 8 years; weight increased to 23.1 kg following zinc glucontate administration. Family history: only child of unrelated parents; father met DSM-IV criteria for social phobia; no family history of ASD; two maternal uncles with history of alcohol abuse.
IQ (110) within normal range
42242879
44699760
2456882
GRCh38
Deletion
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
iourov_15_ASD_discovery_cases-case1
Possibly paternal (father met DSM-IV criteria for social phobia)
Unknown
Simplex for ASD
Unknown
CCK,SALL4P6,EIF4BP4,RN7SL567P,KLHL40,HHATL-AS1,LINC02158,HNRNPA1P22,KRBOX1-AS1,RN7SL517P,RNU6-367P,MIR138-1,LINC01988,EI24P3,ZNF197-AS1,ZNF35,LYZL4,VIPR1,VIPR1-AS1,SS18L2,NKTR,ZBTB47,HHATL,CCDC13-AS1,HIGD1A,ZNF662,POMGNT2,SNRK-AS1,ABHD5,TCAIM,ZNF852,ZNF660,MPRIPP1,ZNF197,SEC22C,CCDC13,ACKR2,KRBOX1,CYP8B1,SNRK,ANO10,TOPAZ1,C3orf86,ZNF445,ZKSCAN7,ZKSCAN7-AS1
Controls
No Control Data Available
No Animal Model Data Available