7q31.31-q31.33CNV Type: Deletion
Largest CNV size: 5400000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Submicroscopic deletion in 7q31 encompassing CADPS2 and TSPAN12 in a child with autism spectrum disorder and PHPV.
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
okamoto_11_ASD_discovery_cases
3 yr old autistic male with persistent hyperplastic primary vitreous (PHPV), born to non-consanguineous healthy parents.
1
ASD (DSM-VI criteria)
3 yr. 8 mo.
Male
5400000
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
okamoto_11_ASD_discovery_cases-case1
3 yr. 8 mo.
M
ASD
Diagnosed with ASD (based on DSM-VI criteria). Normal gross motor development, delayed verbal development. Impaired social interactions, poor social skills, strict adherence to routine behaviors, stereotypic movements, hyperactivity. No ataxic movement. EEG showed occipital epileptic discharges, but no seizures. No specific brain MRI findings in CNS. Vision: bilateral PHPV, bilateral firbous intraocular tissue on brain MRI, bilateral posterior echogenic bands on ultrasound, congenital nystagmus, low visual acuity. Dysmorphic features (round face, low-set ears, broad eyebrows, apparent hypertelorism, blepharophimosis, hypoplastic alae nasi, long philtrum, small mouth). Growth parameters: height 88.6 cm (-2.4 SD), weight 11.7 kg (-1.8 SD), head circumference 46.8 cm (-2.4 SD). Karyotype: 46, XY, inv(4)(p14;q21).
Mild intellectual disability. DQ=76 (standard Japanese method).
5400000
NCBI36
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
okamoto_11_ASD_discovery_cases-case1
FISH
De novo
Simplex
NA
KCND2, TSPAN12, ING3, C7orf58, WNT16, FAM3C, LOC392979, PTPRZ1, AASS, FEZ1, CADPS2, RNF133, RNF146, AK058116, TAS2R16, SLC13A1, IQUB, NDUFA5, ASB15, LMOD2, WASL, HYAL4, SPAM1, LC136157, GPR37, POT1
Controls
No Control Data Available
No Animal Model Data Available