5p15.31-p15.2CNV Type: Deletion
Largest CNV size: 3429389 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
A variant Cri du Chat phenotype and autism spectrum disorder in a subject with de novo cryptic microdeletions involving 5p15.2 and 3p24.3-25 detect...
Deletion
Structural variation of chromosomes in autism spectrum disorder.
Deletion
Phenomic determinants of genomic variation in autism spectrum disorders.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
harvard_05_ASD_discovery_cases
Male proband from multiplex ASD family
1
Diagnosis of ASD based on DSM-IV criteria, CARS, and ADI-R (made at 7 yrs. 3 mos.). Case also exhibits mild ID and ADHD.
13 yrs. 7 mos.
Male
NA
1
0
1
marshall_08_ASD_discovery_cases
Cohort of ASD families (237 simplex, 189 mulitplex) recruited from the Hospital for Sick Children, McMaster Univ., Memorial Univ., and other sites
427
ASD
3429389
1
0
1
qiao_09_ASD_discovery_cases
Subjects with ASD: 31 from simplex families, 45 from immediate multiplex families (MPX-I; sharing an ASD with another family member via a 1st degree relationship), 24 from extended multiplex families (MPX-E; sharing an ASD with another family member via 2nd degree relationship)
100
ASD. Diagnosis based on DSM-IV-TR criteria using ADI-R and/or ADOS-G standards
Range, 2-40 yrs.
76% Male
2400000
1
0
1
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
2451092
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
marshall_08_ASD_discovery_controls_1
German PopGen project and entries from Database of Genomic Variants
500
Controls
0
0
0
0
marshall_08_ASD_discovery_controls_2
Non-disease controls from Ontario population
1152
Controls
0
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
harvard_05_ASD_discovery_cases
Canadian
aCGH
Spectral Genomics (G) Chip 1-Mb resolution array
Genepix Pro 4.0 software, Spectralware BAC Array Analysis Software v.2.0
Microsatellite analysis, FISH
marshall_08_ASD_discovery_cases
90% European, 4.5% European-mixed, 4.5% Asian, 0.07% African
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
qPCR, qmPCR
qiao_09_ASD_discovery_cases
NA
aCGH
BACs aCGH
FISH
quintela_17_DD/ID_discovery_cases
North West Spain
Array SNP
Affymetrix Cytogenetics Whole-Genome 2M SNP array, Affymetrix CytoScan HD
Affymetrix ChAS v.1.2.2
None
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
marshall_08_ASD_discovery_controls_1
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
marshall_08_ASD_discovery_controls_2
European
Array SNP, karotyping
Affymetrix 500K
dChip, CNAG, GEMCA
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
harvard_05_ASD_discovery_cases-case1
13 yrs. 7 mos.
M
ASD
Diagnosis of ASD based on DSM-IV criteria, CARS, and ADI-R (made at 7 yrs. 3 mos.); reassessment at 13 yrs. 7 mos. using ADOS module 3 revealed scores above cut-off for ASD. Birth/neonatal history: fourth of four pregnancies; born at term by induced vaginal delivery after uncomplicated pregnancy. Developmental milestones: normal early gross motor milestones (sitting at 6 months, cruising at 9 months); unsteady gait, poor balance and coordination apparent by 17 months; oral motor apraxia. Continued significant developmental delay in all areas noted at 7 years 3 months. Language and communication evaluation: moderate-to-severe language delay; receptive language at 2.5-3 yr level (testing at 4 yrs. 2 mos. of age); expressive language at 18-21 month level (testing at 4 yrs. 2 mos. of age). Motor skills and musculoskeletal evaluation: mild hypotonia and walking with a wide-based gait at 2 years 8 months; persistent hypotonia at 4 years 2 months. Behavioral/psychiatric characteristics: ADHD (proband prescribed Ritalin at 6 yrs., improved attention and ability to focus observed at 7 yrs. 3 mos.); extreme aggression; problems with reciprocal social interactions (abnormal eye contact with non-family members, lack of insight, awkwardness in social settings, self-stimulatory and atypical behaviors); prescribed Respiradol since 9 years of age for behavioral management and Celexa since age 10-11 years. Epilepsy/seizures: one generalized seizure at 9 years of age with prolonged postictal episode; no subsequent seizures. EEG (at 9 yrs): abnormal with background dysrhythmic and asymmetric, compatible with an area of irritability in right occipital area. Brain MRI: normal. Dysmorphic features: corase facies, mild frontal bossing, prominence of supraorbital ridges, hypertelorism, large ears with thickened scaphohelices bilaterally, broad and high nasal root, high-arched palate, clefted chin, single occipital hair whorl, bilateral tight heel cords, mild equinovarus deformity. Growth parameters: height, 98th %ile; weight, 95th %ile; OFC, >98th %ile. Family history: healthy parents; 15-yr-old sister with ASD (lacks 5p15.31-p15.2 deletion); two healthy older siblings; maternal aunt with schizophrenia; maternal uncle with Down syndrome. Other genetic characteristics: complex karyotype with two chromosomal rearrangments [t(5;7)(p15.1; p12.2) and inv(3)(p24q24)].
Cognitive testing at 4 yrs. 2 months using Stanford-Binet: overall socres in borderline range (2.5 year level), with better performance on visually based tasks. Vineland Adaptive Behavior Scale (at 4 yrs. 2 mos.): overall composite score equivalent to 1 yrs 9 mos. (mild intellectual disability range).
NA (approximate start, 9334790)
NA (approximate end, 11738791)
NA (approx. between 2.4-4.1 Mb)
NCBI35
Deletion
Yes
marshall_08_ASD_discovery_cases-SK0152-003
NA
M
ASD
RL/EL moderate/sever delay, severe speech unintelligibility, moderate repetitive behavior, hypotonia
LOF 31
9222699
12652088
3429390
GRCh38
Deletion
Yes
qiao_09_ASD_discovery_cases-case3
Range, 11-15
M
Autism
Phenotype Score: 6. Seizures. Growth parameters: postnatal large stature (>98th %ile), macrocephaly (OFC >98th %ile). Dysmorphic features: >2 craniofacial dysmorphisms. Other: >2 systemic congenital anomalies. Family history: multiplex immediate (MPX-I; sharing an ASD with another family member via a 1st degree co-relationship). Case also showed inv(3)(p24q24),t(5;7)(p15.1;p12.2) by karyotype analysis.
Moderate intellectual disability (IQ between 35 & 50)
9334790
11738791
2400000
Unknown
Deletion
Yes
quintela_17_DD/ID_discovery_cases-caseID_364
9 yrs.
F
Intellectual disability and ADHD
ADHD (combined type). CNV inherited from unaffected parent.
Intellectual disability
8769968
11221059
2451092
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
harvard_05_ASD_discovery_cases-case1
Microsatellite analysis, FISH
De novo
Multiplex
Not segregated (sister with ASD lacks deletion)
Est. gene content: SEMA5A,TAS2R1,FAM173B,CCT5,CMBL,MARCH6,ROPN1L,ANKRD33B,DAP,CTNND2
marshall_08_ASD_discovery_cases-SK0152-003
qPCR, qmPCR
De novo
Multiplex-CHR
NA
SEMA5A-AS1,SNHG18,SNORD123,RNA5SP177,ROPN1L-AS1,MIR6131,LINC01513,RPL30P7,ANKRD33B-AS1,RNU6-429P,RNU6-679P,LINC02221,FAM173B,CCT5,CMBL,ROPN1L,LINC02212,LINC02213,TAS2R1,LINC02112,MARCH6,ANKRD33B,DAP,SEMA5A,CTNND2,LINC01194
qiao_09_ASD_discovery_cases-case3
FISH
De novo
Multiplex
SEMA5A,TAS2R1,FAM173B,CCT5,CMBL,MARCH6,ROPN1L,ANKRD33B,DAP,CTNND2
quintela_17_DD/ID_discovery_cases-caseID_364
Paternal
Unknown
MIR4636,SEMA5A-AS1,SNHG18,SNORD123,RNA5SP177,ROPN1L-AS1,MIR6131,LINC01513,RPL30P7,ANKRD33B-AS1,RNU6-429P,LINC02199,LINC02221,FAM173B,CCT5,CMBL,ROPN1L,LINC02212,LINC02213,TAS2R1,LINC02112,MARCH6,ANKRD33B,DAP,SEMA5A,CTNND2
Controls
No Control Data Available
No Animal Model Data Available