6p25.3-p24.3CNV Type: Deletion
Largest CNV size: 8870591 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Rare singleton deletion within this region was found in a case from a study of 15,749 individuals from the International Standards for Cytogenomic Arrays (ISCA) consortium with unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome (Kaminsky et al., 2011).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Chromosomal microarray testing in adults with intellectual disability presenting with comorbid psychiatric disorders.
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_cases
Cases from the International Standards for Cytogenomic Arrays (ISCA) consortium
15749
Unexplained developmental delay, intellectual disability, dysmorphic features, multiple congenital anomalies, autism spectrum disorders, or clinical features suggestive of a chromosomal syndrome
NA
NA
8870591
1
0
1
maini_18_ASD/DD/ID_discovery_cases
Patients evaluated at the Clinical Genetics Unit of Arcispedale Santa Maria Nuova, AUSL-IRCCS of Reggio Emilia that were investigated through aCGH between 2005 and 2016
293
Cases presented with one or more neurodevelopmental disorders (NDD), multiple congenital anomalies (MCA), and/or dysmorphic features. Most frequent neurodevelopmental diagnoses include language delay (78.5%), intellectual disability (66.4%), motor delay (50.7%), and ASD (13.9%); dysmorphic features were also frequently observed (52.7%)
Mean age, 7 yrs. (range, 1 mo.-29 yrs.)
57.5% Male
6800000
1
0
1
wolfe_16_ID_discovery_cases
Patients recruited via the Mental Health Research Network (MHRN) at 32 National Health Service (NHS) trusts and 1 non-NHS provider across England between August 2012 and March 2014.
202
All cases presented with intellectual disability. Clinical data including medical and psychiatric history (ICD-10 diagnoses) was collected from an informant and/or medical records; detailed psychiatric and behavioral phenotyping undertaken using the Mini Psychiatric Assessment Schedule for Adults with Developmental Disabilities (Mini PAS-ADD) and Behaviour Problems Inventory-Short Form (BPI-S).
Mean age, 37 yrs. (range, 18-78 yrs.)
63% Male
7196168
1
0
1
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
kaminsky_11_DD/ID/ASD_discovery_controls
Controls from the International Standards for Cytogenomic Arrays (ISCA) consortium
10118
Controls
NA
NA
NA
NA
NA
NA
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_cases
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
FISH, qPCR, MLPA, aCGH, standard G-banded chromosome analysis
maini_18_ASD/DD/ID_discovery_cases
Italian
aCGH, array SNP
Multiple platforms, including Agilent and Affymetrix arrays (8x60K oligochips since 2012)
None
wolfe_16_ID_discovery_cases
74% White British
aCGH
Nimblegen 135K
qPCR, FISH, QF-PCR
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
kaminsky_11_DD/ID/ASD_discovery_controls
NA
aCGH
Agilent 44K, Agilent 105K
Feature Extraction, DNA Analytics
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002414
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
165675
9036034
8870360
GRCh38
Deletion
Yes
maini_18_ASD/DD/ID_discovery_cases-case40
2 yrs.
F
Motor delay
Birth history: born at 41 weeks gestation following a pregnancy marked by oligohydramnios. Developmental milestones: motor delay. Language and communication evaluation: no language disorder or absent speech. Behavioral/psychiatric evaluation: no reported behavioral or psychiatric abnormalities. Epilepsy/abnormal EEG: positive for epilepsy and/or abnormal EEG. Additional medical history: gastroenteric malformations, hearing loss, skin anomalies, skin softness/joint laxity. Dysmorphic features: downslanting palpebral fissures, thick lips, ears with thick helices. Growth parameters: macrocephaly, somatic overgrowth. Family history: negative for consanguineity, positive for familiarity, family history negative for NDDs.
Normal (no intellectual disability or learning disorder)
255350
7107982
6852633
GRCh38
Mosaic deletion
No
wolfe_16_ID_discovery_cases-DECIPHER327131
49 yrs.
M
Intellectual disability and ASD
Psychiatric history: anxiety disorder, depression. Mini PAS-ADD evaluation: hypomania, psychosis, autistic spectrum disorder (ASD). BPI-S evaluation: at least weekly aggressive/destructive behavior and stereotyped behavior. Medical history: bilateral sensorineural hearing impairment, epilepsy, psychogenic polydipsia, hypogonadism, arthritis, osteoporesis, dysphagia. Dysmorphic features: facial asymmetry, abnormal facial shape, dental crowding, abnormality of the fingers, large ears, cranial abnormality. Growth parameters: height 157 cm, head circumference 56 cm. Ethnicity: white (British).
Mild intellectual disability
195438
7391372
7195935
GRCh38
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
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002414
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,MIR7853,MIR5683,SNAPC5P1,CNN3P1,BTF3P7,RN7SL554P,HNRNPLP1,PIP5K1P1,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,LY86,RIOK1,DSP,TXNDC5,BLOC1S5,EEF1E1-BLOC1S5,EEF1E1,SLC35B3,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,LY86-AS1,RREB1,SNRNP48,BMP6,BLOC1S5-TXNDC5,GMDS,BPHL,LYRM4,F13A1,SSR1,CAGE1
maini_18_ASD/DD/ID_discovery_cases-case40
De novo
Simplex
Possibly segregated
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,MIR7853,MIR5683,SNAPC5P1,CNN3P1,BTF3P7,RN7SL554P,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,LY86,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,LY86-AS1,RREB1,GMDS,BPHL,LYRM4,F13A1
wolfe_16_ID_discovery_cases-DECIPHER327131
qPCR, FISH, or QF-PCR
Unknown
Unknown
Unknown
HUS1B,FOXQ1,LINC01394,MIR6720,FOXC1,HMGN2P28,LINC01600,MIR4645,LINC01011,HTATSF1P2,FAM136BP,SERPINB8P1,RNA5SP201,TUBB2A,TDGF1P4,GLRX3P2,RNA5SP202,LINC02533,KU-MEL-3,PSMC1P11,LYRM4-AS1,PPP1R3G,MIR3691,HNRNPA1P37,RN7SL221P,PKMP5,NRN1,MIR7853,MIR5683,SNAPC5P1,CNN3P1,BTF3P7,RN7SL554P,DUSP22,FOXF2,RN7SL352P,FOXCUT,MYLK4,WRNIP1,SERPINB1,SERPINB9P1,SERPINB9,SERPINB6,RIPK1,TUBB2BP1,LINC02525,TUBB2B,PXDC1,FAM50B,C6orf201,ECI2,RPP40,LY86,RIOK1,IRF4,EXOC2,GMDS-DT,LINC02521,NQO2,PSMG4,SLC22A23,PRPF4B,FAM217A,CDYL,FARS2,LY86-AS1,RREB1,GMDS,BPHL,LYRM4,F13A1,SSR1,CAGE1
Controls
No Control Data Available
No Animal Model Data Available