9p24CNV Type: Deletion
Largest CNV size: NA bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A de novo deletion containing the DOCK8 and KANK1 genes was identified in a male case of ASD; however, because the precise start and end points of the deletion were not provided, the exact size and gene content cannot be fully determined.
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Association of deletion 9p, 46,XY gonadal dysgenesis and autistic spectrum disorder.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Coexistence of 9p Deletion Syndrome and Autism Spectrum Disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gunes_16_ASD/ID_discovery_cases
Case with 9p deletion syndrome accompanied by ASD and intellectual disability
1
Case diagnosed with ASD (according to DSM-5) and moderate intellectual disability, accompanied with 9p deletion syndrome
5 yrs.
Male
N/A
1
0
1
vinci_07_ASD_discovery_cases
Case of 46, XY partial gonadal dysgenesis of autism spectrum disorder (ASD)
1
ASD and gonadal dysgenesis
11 yrs. 7 mos.
Male
NA
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
gunes_16_ASD/ID_discovery_cases
Turkey
G-banded karyotyping
None
vinci_07_ASD_discovery_cases
French
aCGH
NimbleGen whole genome CGH array
SignalMap v.1.8
G-banded karyotyping
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
gunes_16_ASD/ID_discovery_cases-case1
5 yrs.
M
ASD and intellectual disability
Case diagnosed with ASD (according to DSM-5); CARS total score of 48. Birth/neonatal history: unremarkable prenatal, natal, and postnatal histories. Developmental milestones: delayed general development; delayed speech; marked delays in basic motor skills. Language and communication evaluation: absent speech (never begun speaking); impairments in verbal and non-verbal communication. Behavioral/psychiatric evaluation: no eye contact, impairments in social interaction, restricted and stereotyped interests and behaviors. Visual evaluation: normal. Brain imaging: cortical atrophy revealed by brain MRI. Additional medical history: ventricular septal defect, inguinal hernia. Dysmorphic features: trigonocephaly, hypertelorism, flat nasal bridge, micrognathia, long upper lip, low-set malformed posteriorly angulated ears. Growth parameters: not reported. Family history: not reported. Karyotype: 46,XY,del(9p24).
Moderate intellectual disability. Denver-II test showed delays in all developmental areas.
N/A
N/A
N/A
Unknown
Deletion
No
vinci_07_ASD_discovery_cases-case1
11 yrs. 7 mos.
M
ASD
Birth/neonatal history: born prematurely at 32 weeks of gestation with ambigious external genitalia. Developmental milestones: delays in motor acquisition and language development. Behavioral/psychiatric evaluation: behavioral problems noted at 18 months of age (displayed agitation and stereotypic verbal and gestural movements, absence of interaction with other children and adults, showed fascination for lights, water, and noise); relational difficulties and inability to follow simple tasks reported at 3 yrs.; patient noted as stubborn, overactive, impulsive, had temper tantrums when frustrated; had poor eye contact. Other medical concerns and comorbidities: diagnosis of 46, XY partial gonadal dysgenesis, raised as a male. Growth parameters (at 11 yrs. 7 mos.): height, 142.7 cm; weight, 33 kg; bone age, 11-12 yrs. Family history: unremarkable; mother with reported premature ovarian failure. Karyotype: 46, XY, del(9p24).
1
NA (breakpoint with the GASC1/JMJD2C/KDM4C gene)
NA
Unknown
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
gunes_16_ASD/ID_discovery_cases-case1
Unknown
Unknown
Unknown
CNV gene content N/A (due to lack of defined start and end points)
vinci_07_ASD_discovery_cases-case1
G-banded karyotyping
De novo, paternal chromosome
Possibly simplex
Possibly segregated
Est. gene content: WASH1,FOXD4,CBWD1,C9orf66,DOCK8,KANK1,DMRT1,DMRT3,DMRT2,SMARCA2,VLDLR,KCNV2,KIAA0020,RFX3,GLIS3,SLC1A1,C9orf68,PPAPDC2,CDC37L1,AK3,RCL1,JAK2,INSL6,INSL4,RLN2,RLN1,C9orf46,CD274,PDCD1LG2,KIAA1432,ERMP1,MLANA,KIAA2026,RANBP6,IL33,TPD52L3,UHRF2,GLDC,KDM4C/GASC1/JMJD2C
Controls
No Control Data Available
No Animal Model Data Available