17q23.3-q24.2CNV Type: Deletion
Largest CNV size: 4060000 bp
Statistics Box:
Number of Reports: 2
Number of Reports: 2
Summary Information
A 4.06-Mb de novo deletion in this region containing the ASD candidate gene PSMD12 was identified in a male patient presenting with intellectual disability, speech delay, motor delay, hypotonia, deafness, cardiac malformations, renal malformations, and dysmorphic features (Kury et al., 2017).
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
De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
chaves_19_ASD/DD/ID_discovery_cases
Patients from the south of Brazil with neurodevelopmental disorders
420
Developmental delay/intellectual disability present in 80% of cases, ASD in 32%
Range, 0-49 years (mean 9.5 9.73 years)
61.90% Male
3701329
0
1
1
kury_17_DD/ID_discovery_cases
Unrelated individuals presenting with de novo 17q24.2 deletions involving the PSMD12 gene (4 individuals were among the 59,092 individuals referred for CMA at Baylor Genetics Laboratories between January 4, 2004 and May 6, 2016; 2 individuals recruited via DECIPHER)
6
All six cases present with developmental delay (DD)/intellectual disability (ID)
Range, 21 mos.-13 yrs. 2 mos.
33.33% Male
4060000
1
0
1
Controls
No Control Data Available
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
chaves_19_ASD/DD/ID_discovery_cases
Brazil
Array SNP
Affymetrix CytoScan 750K, Affymetrix CytoScan HD
Affymetrix ChAS
None
kury_17_DD/ID_discovery_cases
N/A
CMA
Customized exon-targeted oligonucleotide arrays (OLIGO V8, V9, and V10) designed at Baylor Genetics Laboratories
None
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
chaves_19_ASD/DD/ID_discovery_cases-case236
N/A
F
Developmental delay
Slender build, developmental delay, behavioral disorder, facial dysmorphism, microcephaly, and cardiomyopathy
64261883
67963211
3701329
GRCh38
Duplication
No
kury_17_DD/ID_discovery_cases-subject6
3 yrs. 6 mos.
M
Intellectual disability
Birth/neonatal history: 37 week pregnancy complicated by slowed growth in the 3rd trimester; birth weight of 2390 g (-2.2SD), length of 47 cm (-1.5 SD), and OFC of 32 cm (-2 SD). Developmental milestones: motor delay, speech delay. Motor and musculoskeletal evaluation: hypotonia; bilateral 2-3 toe syndactyly. Auditory evaluation: unilateral moderate to severe deafness, stenotic external canals. Ophthalmological evaluation: strabismus (exotropia). Brain imaging: cerebral atrophy, periventricular hypomyelination, and pineal cyst detected on brain MRI. Cardiac malformations: patent ductus arteriosus, left ventricular noncompaction cardiomyopathy, dysplastic tricuspid valve. Renal malformations: unilateral kidney agenesis. Genital malformations: hypospadias. Dysmorphic features: low-set ears, hypertelorism. Growth parameters: weight of 11.3 kg (-2.64 SD), length of 91 cm (-2.2 SD), and OFC of 47.6 cm (-1.6 SD).
Intellectual disability
64212615
68355867
4143253
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
chaves_19_ASD/DD/ID_discovery_cases-case236
Unknown
RPL31P57,ATP5MFP4,MIR3064,MIR5047,MICOS10P2,KPNA2P3,BPTFP1,MIR6080,MIR4315-2,RNU7-115P,RN7SL404P,RDM1P4,SLC16A6P1,AMZ2P1,LINC02563,PSMD7P1,RNA5SP444,RN7SL735P,RNU6-928P,RNA5SP445,MIR634,RNA5SP446,CACNG1,RPL36AP48,RNA5SP447,RN7SL756P,MIR548D2,MIR548AA2,SNORA38B,RPSAP67,RPL17P41,MILR1,DDX5,CEP95,ARHGAP27P1-BPTFP1-KPNA2P3,PLEKHM1P1,APOH,PRKCA-AS1,PSMD12,NOL11,TEX2,PECAM1,POLG2,SMURF2,LRRC37A3,RGS9,AXIN2,PRKCA,CACNG5,CACNG4,PITPNC1,BPTF,GNA13,CEP112,HELZ
kury_17_DD/ID_discovery_cases-subject6
No validation reported
De novo
RPL31P57,ATP5MFP4,MIR3064,MIR5047,KPNA2P3,BPTFP1,MIR6080,MIR4315-2,RNU7-115P,RN7SL404P,RDM1P4,SLC16A6P1,AMZ2P1,LINC02563,PSMD7P1,RNA5SP444,RN7SL735P,RNU6-928P,RNA5SP445,MIR634,RNA5SP446,CACNG1,RPL36AP48,RNA5SP447,RN7SL756P,MIR548D2,MIR548AA2,SNORA38B,RPSAP67,RPL17P41,RN7SL622P,FBXO36P1,SH3GL1P3,ARHGAP27P2,MILR1,DDX5,CEP95,ARHGAP27P1-BPTFP1-KPNA2P3,PLEKHM1P1,APOH,PRKCA-AS1,PSMD12,NOL11,C17orf58,KPNA2,LINC00674,LRRC37A16P,AMZ2,TEX2,PECAM1,POLG2,SMURF2,LRRC37A3,RGS9,AXIN2,PRKCA,CACNG5,CACNG4,PITPNC1,BPTF,ARSG,SLC16A6,GNA13,CEP112,RDM1P3,HELZ
Controls
No Control Data Available
No Animal Model Data Available