4p16.3-p15.32CNV Type: Deletion
Largest CNV size: 16645848 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
Summary statement in development
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Deletion
An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabili...
Deletion
Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
hao_21_DD/ID_discovery_cases
Proband from a four-generation Chinese pedigree who was one of ten family members affected with developmental delay/intellectual disability, all of whom that were tested carried a 4p16.3-p15.32 microduplication a the 8p23.3-p23.2 microdeletion.
1
Proband presented with developmental delay and intellectual disability, as did all affected family members in this pedigree.
4 yrs.
Male
16669038
0
1
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
17022423
1
0
1
szatmari_07_ASD_discovery_cases
ASD patients from 173 families with at least two affected individuals from AGP
196
Patients diagnosed with ASD based on ADI-R and ADOS
16645848
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
hao_21_DD/ID_discovery_cases
China
Solid phase hybridization
Illumina Infinium Global Screening Array
cnvPartition (v.1.2.1 to v.3.1.6)
Illumina KaryoStudio
None
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
szatmari_07_ASD_discovery_cases
Array SNP
Affymetrix 10K (v2)
HMM
dChip
Karyotyping, qPCR, aCGH, array SNP, overlap with Mendelian genotype errors
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
hao_21_DD/ID_discovery_cases-caseIV-14
4 yrs.
M
Developmental delay and intellectual disability
Birth/neonatal history: premature birth (36 weeks gestation); birth weight 2.2 kg (1st %ile), birth length 47 cm (5th %ile), birth head circumference 32 cm (3rd %ile); incubated for about one mouth due to premature birth and low birth weight. Developmental milestones: developmental delay; delayed ability to sit (10 months), delayed ability to walk (20 months), speech delay. Language and communication evaluation: can only say three words, which are pronounced through mouth and nasal cavity; difficulties in communicating with and understanding him. Motor and musculoskeletal evaluation: slight tiptoeing, imbalance resulting in frequent falls. Behavioral/psychiatric evaluation: impulsivity and aggressive behavior. Brain imaging: normal brain MRI. Dysmorphic features: none reported. Growth parameters: height 110 cm (85th %ile), normal physical development. Karyotype: [46,XY,der(8)t(4;8)(p15.2;p23.1)mat]. Family history: born to healthy non-consanguineous parents; this proband is one of 10 affected individuals with developmental delay/intellectual disability in a four-generation Chinese pedigree (all of whom that were tested also carried the 4p16.3-p15.32 microduplication and the 8p23.3-p23.2 microdeletion).
Intellectual disability (IQ 55) with a Age Equivalent of 27.5 months at 4 years 2 months of age; Social Living Ability of Infant-Junior Middle School Students total score of 22 (standard score 7), suggesting medium problem in social living ability.
35029
16704066
16669038
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002498
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
85149
17486742
17401594
GRCh38
Deletion
Yes
szatmari_07_ASD_discovery_cases-NAAR052-F6-HI0682
NA
ASD
NA
NA
415163
17366908
16951746
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
hao_21_DD/ID_discovery_cases-caseIV-14
Inherited
Multi-generational
Segregated
ATP5ME,NKX3-2,ADD1,ADRA2C,BST1,CD38,CTBP1,EVC,DGKQ,FGFR3,CRMP1,DRD5,NSG1,OR7E43P,GPR78,STX18,NKX1-1,LYAR,STK32B,BLOC1S4,FGFRL1,CYTL1,SH3TC1,PIGG,UVSSA,SLC2A9,TBC1D14,CC2D2A,ZFYVE28,AFAP1,SORCS2,HAUS3,TNIP2,GRPEL1,SLC49A3,TMEM175,FGFBP2,ABCA11P,OR7E99P,TADA2B,TMEM129,HTRA3,AFAP1-AS1,TMEM128,CTBP1-DT,MRFAP1,ABLIM2,ZNF518B,CLNK,MRFAP1L1,C1QTNF7,CPEB2,EVC2,LINC01085,OTOP1,ZNF595,FAM53A,TRMT44,JAKMIP1,TAPT1-AS1,ZBTB49,ZNF721,TAPT1,LINC00504,HTT,IDUA,HMX1,GRK4,GAK,HGFAC,BOD1L1,ZNF718,CCDC96,OR7E103P,LINC01097,LINC02495,FAM200B,DOK7,LINC02481,LINC00955,NOP14-AS1,LINC01096,RNF212,CTBP1-AS,MSANTD1,NAT8L,RAF1P1,C4orf50,POLN,FAM86EP,C4orf48,HSP90AB2P,OR7E35P,OR7E83P,USP17L6P,OR7E84P,USP17L9P,MIR95,CFAP99,CPEB2-DT,OR7E162P,OR7E85P,OR7E86P,ZNF876P,UNC93B4,RNPS1P1,DEFB131A,FAM86MP,RPS7P15,MIR571,OR7E85BP,USP17L26,USP17L25,RPS3AP16,ZNF732,USP17L30,USP17L29,SCARNA22,USP17L5,USP17L27,MIR572,GMPSP1,USP17L24,RPS3AP19,ALG1L7P,USP17L28,LINC02447,MIR943,RPL32P12,PSAPL1,RPS21P4,HPRT1P1,LRPAP1,LETM1,LDHAP1,MSX1,MYL5,LINC02171,OR7E163P,ALG1L3P,DEFB108F,USP17L18,FAM86KP,USP17L17,USP17L11,USP17L12,OR7E111FP,USP17L16P,USP17L15,USP17L21,USP17L14P,USP17L19,USP17L13,USP17L10,USP17L20,USP17L22,FAM90A26,COX6B1P5,TMED11P,MIR548I2,ENPP7P10,ENPP7P9,ENPP7P11,ZEB2P1,MIR4274,MIR3138,STX18-AS1,MIR378D1,MIR4800,HTT-AS,RNA5SP153,RNA5SP152,RNA5SP154,RNA5SP155,MTND2P31,MIR5091,MIR4798,RNA5SP156,UNC93B8,UNC93B7,ALG1L14P,USP17L23,BNIP3P41,PDE6B,S100P,RGS12,PPP2R2C,RNF4,LINC01182,C1QTNF7-AS1,LINC02270,PDE6B-AS1,LINC02498,LINC01396,STX18-IT1,LINC02482,LINC02360,SLC2A9-AS1,LINC02517,RN7SKP292,RN7SKP170,NSD2,SH3BP2,NELFA,WFS1,RN7SL589P,SNRPCP16,RN7SKP36,RN7SKP113,RN7SKP275,RNU6-204P,ZNF519P4,SNRPCP13,ECM1P2,RNU6-578P,LINC02600,DEFB130D,TMEM271,CPZ,FAM193A,NOP14,ACOX3,ZNF141,PROM1,SLBP,SLBP-DT,LINC01587,KIAA0232,RAB28,WDR1,HS3ST1,FGFBP1,LDB2,MFSD10,MAEA,CPLX1,SPON2,MXD4,TACC3,SLC26A1,PCGF3,FBXL5,MAN2B2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002498
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR571,ZNF519P4,TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,PSAPL1,MIR4274,MIR95,GMPSP1,RNA5SP152,SNRPCP16,ALG1L14P,USP17L10,USP17L11,USP17L12,USP17L13,USP17L14P,USP17L15,USP17L17,USP17L18,USP17L19,USP17L20,USP17L21,USP17L22,USP17L23,USP17L24,USP17L25,USP17L26,USP17L5,USP17L27,USP17L28,USP17L29,USP17L9P,USP17L30,USP17L6P,DEFB108F,RNA5SP153,DEFB130D,DEFB131A,OR7E86P,OR7E85P,UNC93B7,OR7E83P,MIR548I2,SNRPCP13,ENPP7P11,ALG1L3P,OR7E35P,DRD5,RNA5SP154,MIR3138,RNA5SP155,MIR572,RNPS1P1,RNA5SP156,RNU6-578P,ECM1P2,NKX3-2,LINC01096,MIR5091,MTND2P31,RN7SKP170,HPRT1P1,FGFBP1,FGFBP2,RPS21P4,MTND5P4,LINC02493,SNORA75B,RPS7P6,ZNF595,ZNF876P,ZNF732,ZNF141,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,AFAP1-AS1,SH3TC1,HTRA3,LINC02517,TRMT44,GPR78,CPZ,HMX1,UNC93B8,ENPP7P10,FAM86KP,USP17L16P,OR7E84P,RAF1P1,ZNF518B,LINC02360,LINC02270,HSP90AB2P,LINC01097,BOD1L1,LINC01085,CPEB2,C1QTNF7,FBXL5,FAM200B,CD38,TAPT1,QDPR,ZNF718,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,ABLIM2,FAM90A26,FAM86MP,SLC2A9,WDR1,CLNK,LINC02498,HS3ST1,RAB28,LINC01182,CPEB2-DT,CC2D2A,PROM1,TAPT1-AS1,ZEB2P1,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2,LINC00504,BST1,ACOX3,LDB2
szatmari_07_ASD_discovery_cases-NAAR052-F6-HI0682
Karyotyping, qPCR, aCGH, array SNP, or overlap with Mendelian genotype errors
Unknown
NA
NA
TMEM271,ATP5ME,MYL5,NKX1-1,SCARNA22,MIR943,C4orf48,COX6B1P5,MIR4800,RN7SL589P,RNU6-204P,HGFAC,LINC02171,LINC02600,OR7E163P,OR7E162P,ALG1L7P,ENPP7P9,OR4D12P,OR7E99P,OR7E43P,STX18-IT1,RPS7P15,MSX1,LDHAP1,RN7SKP113,CYTL1,RN7SKP275,LINC01587,MIR378D1,MRFAP1,LINC002481,S100P,MRFAP1L1,RN7SKP292,CCDC96,LINC02447,RN7SKP36,MIR4798,PSAPL1,MIR4274,MIR95,GMPSP1,RNA5SP152,SNRPCP16,ALG1L14P,USP17L10,USP17L11,USP17L12,USP17L13,USP17L14P,USP17L15,USP17L17,USP17L18,USP17L19,USP17L20,USP17L21,USP17L22,USP17L23,USP17L24,USP17L25,USP17L26,USP17L5,USP17L27,USP17L28,USP17L29,USP17L9P,USP17L30,USP17L6P,DEFB108F,RNA5SP153,DEFB130D,DEFB131A,OR7E86P,OR7E85P,UNC93B7,OR7E83P,MIR548I2,SNRPCP13,ENPP7P11,ALG1L3P,OR7E35P,DRD5,RNA5SP154,MIR3138,RNA5SP155,MIR572,RNPS1P1,RNA5SP156,RNU6-578P,ECM1P2,NKX3-2,LINC01096,MIR5091,MTND2P31,RN7SKP170,HPRT1P1,FGFBP1,FGFBP2,RPS21P4,MTND5P4,LINC02493,SNORA75B,ABCA11P,ZNF721,SLC49A3,PCGF3,TMEM175,DGKQ,SLC26A1,IDUA,FGFRL1,RNF212,TMED11P,CTBP1-AS,CTBP1,CTBP1-DT,UVSSA,FAM53A,TMEM129,TACC3,FGFR3,NELFA,NAT8L,MXD4,CFAP99,SH3BP2,MFSD10,NOP14-AS1,NOP14,HTT-AS,MSANTD1,DOK7,LRPAP1,LINC00955,ADRA2C,FAM86EP,UNC93B4,TMEM128,LYAR,ZBTB49,NSG1,LINC02495,MAN2B2,LINC02482,BLOC1S4,TADA2B,GRPEL1,AFAP1-AS1,SH3TC1,HTRA3,LINC02517,TRMT44,GPR78,CPZ,HMX1,UNC93B8,ENPP7P10,FAM86KP,USP17L16P,OR7E84P,RAF1P1,ZNF518B,LINC02360,LINC02270,HSP90AB2P,LINC01097,BOD1L1,LINC01085,CPEB2,C1QTNF7,FBXL5,FAM200B,CD38,TAPT1,PIGG,PDE6B,CPLX1,GAK,SPON2,MAEA,SLBP,LETM1,NSD2,HAUS3,ZFYVE28,RNF4,FAM193A,TNIP2,ADD1,GRK4,RGS12,STX18,STX18-AS1,LINC01396,EVC2,EVC,CRMP1,C4orf50,JAKMIP1,PPP2R2C,KIAA0232,TBC1D14,AFAP1,ABLIM2,FAM90A26,FAM86MP,SLC2A9,WDR1,CLNK,LINC02498,HS3ST1,RAB28,LINC01182,CPEB2-DT,CC2D2A,PROM1,TAPT1-AS1,ZEB2P1,POLN,HTT,OTOP1,STK32B,WFS1,SORCS2,LINC00504,BST1,ACOX3,LDB2
Controls
No Control Data Available
No Animal Model Data Available