10p12.33-p12.1CNV Type: Deletion
Largest CNV size: 9180000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo deletion spanning this region was identified in a 33-year-old male patient presenting with ASD and cerebral visual impairment (Bosch et al., 2014)
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
Cerebral visual impairment, autism, and pancreatitis associated with a 9 Mbp deletion on 10p12.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
bosch_14_ASD_discovery_cases
33-year-old woman born to unrelated parents with no family history of autism, visual impairment, or pancreatitis.
1
Case diagnosed with autism spectrum disorder (diagnostic tools N/A). Case also presented with cerebral visual impairment (CVI), recurrent acute pancreatitis, and facial dysmorphism.
33 yrs.
Female
9180000
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
bosch_14_ASD_discovery_cases-case1
33 yrs.
F
ASD and cerebral visual impairment
Case diagnosed with autism spectrum disorder (diagnostic tools N/A). Birth/neonatal history: born at term; low birth weight of 2400 g (<2.3 %ile); uneventful neonatal period. Developmental milestones: walking at 14 months. Ophthalmological evaluation: visual impairment, strabismus, and amblyopia in childhood (the latter treated with patching); ocular examination at 33 years showed cerebral visual impairment (CVI) with visual acuity of 0.16 (Landolt C) and concentric impairment of the visual field (Goldman); slit-lamp examination and funduscopy indicated clouding of the cornea and small optic discs. Additional medical history: developed acute pancreatitis at 25, 26, 29, and 32 years of age; menarche at age of 17 years; breast augmentation due to underdeveloped breasts. Dysmorphic features: temporal balding, long face, deep-set eyes, full chin, small ears, clinodactyly of 5th fingers and toes. Growth parameters: height of 170 cm (50th %ile) and head circumference of 56 cm (70th %ile) at age of 33 years. Family history: unrelated parents; no family history of autism, visual impairment, or pancreatitis.
Total intelligence quotients of 77 and 89 at age of 27 years and 30 years, respectively (Wechsler Adult Intelligence Scale III); received special education due to visual impairment
18299254
27474151
9174898
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
bosch_14_ASD_discovery_cases-case1
De novo
Simplex
Segregated
AIFM1P1,UBE2V2P1,HMGN1P20,RNA5SP303,MTND1P37,MTND2P16,RNU6-1212P,AMD1P1,MIR4675,MTND1P21,EIF4BP2,NPM1P30,NEBL-AS1,LUZP4P1,RNU6-15P,RNMTL1P1,MIR1915,SKIDA1,RNU6-306P,HNRNPRP1,RNU6-1141P,RN7SKP219,RN7SKP37,ADIPOR1P1,EBLN1,PSME2P6,RPL31P45,COMMD3,COMMD3-BMI1,RNU6-413P,RNA5SP304,YWHAZP3,PTF1A,OTUD1,NUP35P1,MIR603,RNA5SP305,RN7SKP241,RN7SKP220,GPN3P1,HIRAP1,RNA5SP306,RNU6-632P,RNA5SP307,FAM238B,HSPA8P3,RNU6-946P,RNU6-490P,RNU2-24P,RNU7-12P,RNU6-666P,RNU6-452P,FAM210CP,TRIAP1P1,ARL5B,C10orf113,BMI1,MSRB2,THNSL1,LINC01516,GAD2,FAM238A,SELENOOLP,ABI1,FAM238C,MASTL,ACBD5,LRRC37A6P,PTCHD3,CACNB2,NSUN6,MALRD1,CASC10,MLLT10,DNAJC1,SPAG6,PIP4K2A,ARMC3,C10orf67,ARHGAP21,PRTFDC1,ENKUR,GPR158,LINC00836,MYO3A,APBB1IP,PDSS1,ANKRD26,YME1L1,PLXDC2,NEBL,KIAA1217,ARMC4P1,GPR158-AS1
Controls
No Control Data Available
No Animal Model Data Available