1p36.32-p36.22CNV Type: Deletion
Largest CNV size: 8000279 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Deletions within this region were found in three cases with developmental delay/intellectual disability (Kaminsky et al., 2011; Iourov et al., 2012).
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
Molecular karyotyping by array CGH in a Russian cohort of children with intellectual disability, autism, epilepsy and congenital anomalies.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
CNTN6 copy number variations: Uncertain clinical significance in individuals with neurodevelopmental disorders.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
iourov_12_ASD/ID/EP_discovery_cases
Individuals selected from a total of 2426 patients whom had been evaluated cytogenetically and molecularly between November 2007 and May 2012
54
Intellectual disability (ID), autism/ASD, epilepsy (EP), and/or congenital anomalies
Range, 3 mos.-11 yrs.
NA
4440545
1
0
1
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
8000279
2
0
2
repnikova_19_ASD/DD/ADHD_discovery_cases
Unrelated individuals with exonic CNVs involving the CNTN6 gene from an initial cohort of 6,200 patients referred to Children's Mercy Hospital and 14,026 patients referred to Nationwide Children's Hospital for microarray testing from 2008 to 2015
19
The most frequently observed phenotypes in this cohort were developmental delay (9 patients), ASD (diagnosis based on DSM-IV criteria in seven patients), and ADHD (six patients).
Range, 10 days-60 years
63.16% Male
8128465
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
iourov_12_ASD/ID/EP_discovery_cases
Russian
aCGH
BACs aCGH
FISH
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
repnikova_19_ASD/DD/ADHD_discovery_cases
N/A
aCGH, array SNP
Roche NimbleGen 135K, Agilent CGH+SNP 135K, OGT 4x180K ISCA v2, Affymetrix Cytoscan HD
Agilent CGH analytics v.3.4.40, Agilent Feature Extraction v.9.5.1, Agilent DNA Analytics v.4.0.91,
None
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
iourov_12_ASD/ID/EP_discovery_cases-case1
10 mos.
M
Developmental delay/intellectual disability
Phenotypically similar to 1p36 deletion phenotype and Pallister-Killian syndrome phentoype. Karytoype: XXY.
Developmental delay/intellectual disability
4872739
9313285
4440547
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004690
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
3319336
11243395
7924060
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005367
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
5274008
9329925
4055918
GRCh38
Deletion
Yes
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH11
9 yrs.
M
Developmental delay, intellectual disability, and OCD
Developmental milestones: developmental delay. Motor and musculoskeletal evaluation: apraxia. Behavioral/psychiatric evaluation: OCD. Dysmorphic features: notched front teeth, prominent ears. Family history: paternal family members with bipolar disorder.
Moderate intellectual disability
4419167
12547657
8128491
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
iourov_12_ASD/ID/EP_discovery_cases-case1
FISH
Unknown
Unknown
Unknown
MIR4689,LINC00337,HES3,MIR4252,TNFRSF25,RNU6-731P,LINC01672,CAMTA1-DT,RNU1-8P,CAMTA1-IT1,VAMP3,RNU1-7P,RNU6-991P,RPL7P11,RPL7P7,RPL23AP19,MIR6728,ENO1-AS1,RNU6-304P,HMGN2P17,RN7SL451P,MIR34A,RPL22,RNF207,ICMT,GPR153,ESPN,PLEKHG5,TAS1R1,ZBTB48,KLHL21,PHF13,THAP3,PER3,UTS2,TNFRSF9,PARK7,ERRFI1,LINC01714,SLC45A1,ENO1,CA6,SLC2A7,GPR157,LNCTAM34A,H6PD,NPHP4,KCNAB2,CHD5,HES2,NOL9,DNAJC11,SLC2A5,MIR34AHG,SPSB1,ACOT7,CAMTA1,RERE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004690
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR551A,TPRG1L,SMIM1,RN7SL574P,EEF1DP6,MIR4689,LINC00337,HES3,MIR4252,TNFRSF25,RNU6-731P,LINC01672,CAMTA1-DT,RNU1-8P,CAMTA1-IT1,VAMP3,RNU1-7P,RNU6-991P,RPL7P11,RPL7P7,RPL23AP19,MIR6728,ENO1-AS1,RNU6-304P,HMGN2P17,RN7SL451P,MIR34A,RNA5SP40,PIK3CD-AS1,MZT1P1,RN7SKP269,MIR5697,PGAM1P11,RNU6-828P,RNU6-37P,RN7SL731P,CORT,RN7SL614P,HSPE1P24,CFL1P6,TARDBP,MTOR-AS1,RNU6-537P,RNU6-291P,RPL39P6,ARHGEF16,WRAP73,TP73-AS1,CCDC27,LRRC47,CEP104,DFFB,C1orf174,LINC01134,LINC01346,LINC01345,LINC01777,RPL22,RNF207,ICMT,GPR153,ESPN,PLEKHG5,TAS1R1,ZBTB48,KLHL21,PHF13,THAP3,PER3,UTS2,TNFRSF9,PARK7,ERRFI1,LINC01714,SLC45A1,ENO1,CA6,SLC2A7,GPR157,LNCTAM34A,H6PD,TMEM201,PIK3CD-AS2,CLSTN1,CTNNBIP1,LZIC,RBP7,PGD,CENPS-CORT,CENPS,DFFA,C1orf127,MASP2,SRM,EXOSC10,ANGPTL7,MEGF6,TP73,LINC01646,AJAP1,NPHP4,KCNAB2,CHD5,HES2,NOL9,DNAJC11,SLC2A5,MIR34AHG,SPSB1,SLC25A33,PIK3CD,NMNAT1,UBE4B,KIF1B,CASZ1,MTOR,PRDM16,ACOT7,CAMTA1,PEX14,RERE
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00005367
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR4689,LINC00337,HES3,MIR4252,TNFRSF25,RNU6-731P,LINC01672,CAMTA1-DT,RNU1-8P,CAMTA1-IT1,VAMP3,RNU1-7P,RNU6-991P,RPL7P11,RPL7P7,RPL23AP19,MIR6728,ENO1-AS1,RNU6-304P,HMGN2P17,RN7SL451P,MIR34A,RPL22,RNF207,ICMT,GPR153,ESPN,PLEKHG5,TAS1R1,ZBTB48,KLHL21,PHF13,THAP3,PER3,UTS2,TNFRSF9,PARK7,ERRFI1,LINC01714,SLC45A1,ENO1,CA6,SLC2A7,GPR157,LNCTAM34A,H6PD,NPHP4,KCNAB2,CHD5,HES2,NOL9,DNAJC11,SLC2A5,MIR34AHG,SPSB1,ACOT7,CAMTA1,RERE
repnikova_19_ASD/DD/ADHD_discovery_cases-caseNCH11
Unknown
Unknown
MIR4689,LINC00337,HES3,MIR4252,TNFRSF25,RNU6-731P,LINC01672,CAMTA1-DT,RNU1-8P,CAMTA1-IT1,VAMP3,RNU1-7P,RNU6-991P,RERE-AS1,RPL7P11,RPL7P7,RPL23AP19,MIR6728,ENO1-AS1,RNU6-304P,HMGN2P17,RN7SL451P,MIR34A,RNA5SP40,PIK3CD-AS1,MZT1P1,RN7SKP269,TMEM274P,MIR5697,PGAM1P11,RNU6-828P,RNU6-37P,RN7SL731P,CORT,RN7SL614P,HSPE1P24,CFL1P6,TARDBP,EXOSC10-AS1,MTOR-AS1,RNU6-537P,RNU6-291P,RPL39P6,UBE2V2P3,MTCYBP45,LINC01647,FBXO44,NPPA,NPPB,RNU5E-1,RNU5E-4P,KIAA2013,MIR6729,RN7SL649P,RNU6-777P,RPL23AP89,MIR7846,MIR4632,RPL10P17,SNORA59A,LINC01777,RPL22,RNF207,ICMT,GPR153,ESPN,PLEKHG5,TAS1R1,ZBTB48,KLHL21,PHF13,THAP3,PER3,UTS2,TNFRSF9,PARK7,ERRFI1,LINC01714,SLC45A1,ENO1,CA6,SLC2A7,GPR157,LNCTAM34A,H6PD,TMEM201,PIK3CD-AS2,CLSTN1,CTNNBIP1,LZIC,RBP7,PGD,CENPS-CORT,CENPS,DFFA,C1orf127,MASP2,SRM,EXOSC10,ANGPTL7,UBIAD1,FBXO2,MAD2L2,DRAXIN,AGTRAP,C1orf167,CLCN6,PLOD1,MFN2,MIIP,TNFRSF8,LINC01646,AJAP1,NPHP4,KCNAB2,CHD5,HES2,NOL9,DNAJC11,SLC2A5,MIR34AHG,SPSB1,SLC25A33,PIK3CD,NMNAT1,UBE4B,KIF1B,CASZ1,MTOR,FBXO6,MTHFR,TNFRSF1B,VPS13D,ACOT7,CAMTA1,LINC02606,PEX14,DISP3,RERE
Controls
No Control Data Available
No Animal Model Data Available