14q32.31-q32.33CNV Type: Deletion-Duplication
Largest CNV size: 4804491 bp
Statistics Box:
Number of Reports: 4
Number of Reports: 4
Summary Information
Deletions within this region were found in three cases 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), while a duplication within this region was found in an ASD case (Prasad 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
Refinement of the critical 2p25.3 deletion region: the role of MYT1L in intellectual disability and obesity.
Duplication
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Duplication
Minor Reports
Title
Author, Year
Report Class
CNV Type
A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases
Cohort consisting of 20 patients (13 sporadic patients and 7 familial cases from two families) with 2p25.3 CNVs
20
All cases with developmental delay/intellectual disability and speech delay; additional diagnoses of ASD and ADHD in a subset of these cases
Range, 3-57 yrs.
55.0% Male
4283290
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
4804491
3
0
3
prasad_12_ASD_discovery_cases
Unrelated ASD cases recruited from three Canadian sites (Hospital for Sick Children, McMaster University, and Memorial University of Newfoundland); the majority of cases had been previously genotyped with results published in Marshall et al., 2008 and Pinto et al., 2010. 20 cases from initial cohort of 696 were excluded from further analysis (due to CNVs > 5 Mb).
676
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS
NA
82.84% Male
4350116
0
1
1
yuen_17_ASD_discovery_cases
ASD genomes (1745 ASD probands, 879 ASD-affected siblings, 1 ASD-affected father, and 1 ASD-affected grandfather) from AGRE (n=730), the AGRE; Autism Treatment Network cohort (n=192) ,the ASD: Genomes to Outcomes Study cohort (n=1421), the Baby Siblings Research Consortium (n=43), the Baby Siblings Research Consortium; The Autism Simplex Collection cohort (n=6), the Infant Sibling Study (n=62), th
2626
ASD diagnosis of research quality when meeting criteria on one (n=437) or both (n=1361) of the diagnostic measures ADI-R and ADOS; clinical diagnosis of ASD (n=819) when given by expert clinician according to DSM-IV or DSM-5
N/A
78.71% Male
3619999
0
1
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
prasad_12_ASD_discovery_controls
PDx controls [1000 DNA samples from reportedly healthy donors (50.2% male) from BioServe (Beltsville, MD)] and 4139 in-house controls previously reported in Krawcak et al. 2006, Stewart et al. 2009, and Bierut et al. 2010. CNVs identified in controls were used to define rare ASD-specific CNVs.
5139
Control
NA
NA (PDx controls 50.2% male)
4350116
0
0
0
Cases
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases
N/A
MLPA
P070 MRC Holland
aCGH
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
prasad_12_ASD_discovery_cases
Canada
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
None
yuen_17_ASD_discovery_cases
N/A
WGS
Complete Genomics, Illumina HiSeq 2000, HiSeq X
aCGH (Agilent 1M), array SNP (Affymetrix 6.0, Affymetrix CytoScan HD), solid phase hybridization (Illumina 1M, Illumina OMNI 2.5M)
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
prasad_12_ASD_discovery_controls
NA
aCGH
Agilent 1M
ADM-2, DNAcopy (R Bioconductor)
DNA Analytics v4.0.85 (Agilent), DNAcopy
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient2
50 yrs.
F
Developmental delay/intellectual disability
Birth/neonatal history: born after uncomplicated pregnancy at 40 weeks of gestation; birth weight of 3500 ; no history of hypotonia or feeding problems. Developmental milestones: slow development; normal education not possible. Langauge and communication evaluation: able to only speak a few words. Behavioral/psychiatric evaluation: showed aggressive and destructive behavior during childhood; repeated handwringing. Dysmorphic features: upslanting palpebral fissures, low frontal hairline, high nasal bridge, broad mouth, full lips. Growth parameters: childhood obesity; height of 160 cm (10th-25th %ile), weight of 81 kg (>90th %ile), and head circumference of 61 cm (>97th %ile) at adulthood.
Developmental delay/intellectual disability
102537878
106879298
4341421
GRCh38
Duplication
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002406
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
102584963
104898605
2313643
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002561
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
102210395
104449321
2238927
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004627
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
101994084
106855405
4861322
GRCh38
Deletion
Yes
prasad_12_ASD_discovery_cases-case90404
NA
M
ASD
Diagnosis of ASD based on meeting criteria on ADI-R and/or ADOS. CNV identified by previous SNP microarray study
102008376
106358491
4350116
Unknown
Duplication
No
yuen_17_ASD_discovery_cases-case1-0041-003
N/A
N/A
ASD
Case cohort: ASD: Genomes to Outcome Study. Clinical description: apraxia
102483664
106113408
3629745
GRCh38
Duplication
Yes
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
de_rocker_14_DD/ID/ASD/ADHD_discovery_cases-patient2
aCGH
De novo
Simplex
Segregated
MIR4309,RN7SL546P,RPL23AP11,RNU6-1316P,RPL13P6,NDUFB4P11,RPL21P12,GCSHP2,LINC00605,RPL21P13,RAP2CP1,SNORA28,HMGB3P26,RPSAP5,RPL10AP1,CKB,RNU7-160P,BAG5,RNU4-68P,LINC00637,RD3L,RN7SL634P,MIR203A,MIR203B,RNU6-684P,CEND1P1,C14orf180,LINC02280,MIR4710,ZBTB42,LINC00638,RPS26P49,RPS2P4,PLD4,CDCA4,LINC02298,MIR6765,NUDT14,RPS20P33,CRIP2,CRIP1,ATP5MC1P1,ELK2BP,IGHA2,IGHE,IGHG4,MIR8071-1,MIR8071-2,IGHGP,ELK2AP,IGHA1,IGHEP1,IGHG3,IGHM,MIR4539,MIR4507,MIR4538,MIR4537,IGHJ6,IGHJ3P,IGHJ5,IGHJ4,IGHJ3,IGHJ2P,IGHJ2,IGHJ1,IGHD7-27,IGHJ1P,IGHD1-26,IGHD6-25,IGHD5-24,IGHD4-23,IGHD3-22,IGHD2-21,IGHD1-20,IGHD6-19,IGHD5-18,IGHD4-17,IGHD3-16,IGHD2-15,IGHD1-14,IGHD6-13,IGHD5-12,IGHD4-11,IGHD3-10,IGHD3-9,IGHD2-8,IGHD1-7,IGHD6-6,IGHD5-5,IGHD4-4,IGHD3-3,IGHD2-2,IGHD1-1,IGHV6-1,IGHVII-1-1,IGHV1-2,IGHVIII-2-1,IGHV1-3,IGHV4-4,IGHV7-4-1,IGHV2-5,IGHVIII-5-1,IGHVIII-5-2,IGHV3-6,IGHV3-7,IGHV3-64D,IGHV5-10-1,IGHV3-11,IGHVIII-11-1,IGHV1-12,IGHV3-13,IGHVIII-13-1,IGHV1-14,IGHV3-15,IGHVII-15-1,IGHV3-16,IGHVIII-16-1,IGHV1-17,SLC20A1P2,IGHV1-18,IGHV3-19,IGHV3-20,IGHV3-21,IGHV3-22,IGHVII-22-1,IGHVIII-22-2,IGHV3-23,IGHV1-24,HOMER2P2,LINC00226,IGHV3-25,IGHVIII-25-1,IGHV2-26,IGHVIII-26-1,IGHVII-26-2,IGHV7-27,IGHV4-28,IGHVII-28-1,IGHV3-32,IGHV3-30,IGHVII-30-1,IGHV3-30-2,IGHV4-31,IGHVII-30-21,IGHV3-29,IGHV3-33,IGHVII-33-1,IGHV3-33-2,IGHV4-34,IGHV7-34-1,IGHV3-35,IGHV3-36,IGHV3-37,IGHV3-38,IGHVIII-38-1,IGHV4-39,IGHV7-40,IGHVII-40-1,IGHV3-41,HOMER2P1,IGHV3-42,IGHV3-43,IGHVII-43-1,IGHVIII-44,IGHVIV-44-1,IGHVII-44-2,IGHV1-45,IGHV1-46,IGHVII-46-1,IGHV3-47,IGHVIII-47-1,IGHV3-48,IGHV3-49,IGHVII-49-1,IGHV3-50,IGHV5-51,IGHVIII-51-1,IGHVII-51-2,IGHV3-52,IGHV3-53,IGHVII-53-1,IGHV3-54,IGHV4-55,IGHV7-56,IGHV3-57,IGHV1-58,IGHV4-59,IGHV3-60,RNA5SP389,IGHVII-60-1,IGHV4-61,IGHVII-62-1,IGHV3-63,IGHV3-64,IGHV3-65,IGHVII-65-1,IGHV3-66,IGHV1-67,SLC20A1P1,IGHVII-67-1,IGHVIII-67-2,IGHVIII-67-3,IGHVIII-67-4,IGHV1-68,IGHV1-69,IGHV2-70D,IGHV3-69-1,IGHV1-69-2,IGHV1-69D,IGHV2-70,IGHV3-71,IGHV3-73,IGHV3-74,IGHVII-74-1,IGHV3-75,IGHV3-76,IGHVIII-76-1,MIR5195,IGHV5-78,IGHVII-78-1,IGHV3-79,IGHV7-81,LINC02323,AMN,LBHD2,EXOC3L4,LINC00677,TNFAIP2,EIF5,TRMT61A,APOPT1,XRCC3,ZFYVE21,ATP5MPL,ASPG,KIF26A,INF2,SIVA1,AKT1,CEP170B,AHNAK2,GPR132,JAG2,TEX22,MTA1,TEDC1,TMEM121,IGHG1,IGHD,FAM30A,ADAM6,LINC00221,IGHV3-62,IGHV3-72,IGHV4-80,RCOR1,TRAF3,CDC42BPB,MARK3,KLC1,TDRD9,TMEM179,ADSSL1,CLBA1,BRF1,BTBD6,PACS2,IGHG2,PPP1R13B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002406
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RPL23AP11,RNU6-1316P,RPL13P6,NDUFB4P11,RPL21P12,GCSHP2,LINC00605,RPL21P13,RAP2CP1,SNORA28,HMGB3P26,RPSAP5,RPL10AP1,CKB,RNU7-160P,BAG5,RNU4-68P,LINC00637,RD3L,RN7SL634P,MIR203A,MIR203B,RNU6-684P,CEND1P1,C14orf180,LINC02280,MIR4710,ZBTB42,LINC00638,RPS26P49,RPS2P4,AMN,LBHD2,EXOC3L4,LINC00677,TNFAIP2,EIF5,TRMT61A,APOPT1,XRCC3,ZFYVE21,ATP5MPL,ASPG,KIF26A,INF2,SIVA1,AKT1,CEP170B,RCOR1,TRAF3,CDC42BPB,MARK3,KLC1,TDRD9,TMEM179,ADSSL1,PPP1R13B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00002561
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RNU6-244P,ANKRD9,MIR4309,RN7SL546P,RPL23AP11,RNU6-1316P,RPL13P6,NDUFB4P11,RPL21P12,GCSHP2,LINC00605,RPL21P13,RAP2CP1,SNORA28,HMGB3P26,RPSAP5,RPL10AP1,CKB,RNU7-160P,BAG5,RNU4-68P,LINC00637,RD3L,RN7SL634P,MIR203A,MIR203B,RNU6-684P,WDR20,ZNF839,CINP,LINC02323,AMN,LBHD2,EXOC3L4,LINC00677,TNFAIP2,EIF5,TRMT61A,APOPT1,XRCC3,ZFYVE21,ATP5MPL,ASPG,KIF26A,MOK,TECPR2,RCOR1,TRAF3,CDC42BPB,MARK3,KLC1,TDRD9,PPP1R13B
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00004627
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
De novo
Unknown
Unknown
RN7SL472P,RNU6-244P,ANKRD9,MIR4309,RN7SL546P,RPL23AP11,RNU6-1316P,RPL13P6,NDUFB4P11,RPL21P12,GCSHP2,LINC00605,RPL21P13,RAP2CP1,SNORA28,HMGB3P26,RPSAP5,RPL10AP1,CKB,RNU7-160P,BAG5,RNU4-68P,LINC00637,RD3L,RN7SL634P,MIR203A,MIR203B,RNU6-684P,CEND1P1,C14orf180,LINC02280,MIR4710,ZBTB42,LINC00638,RPS26P49,RPS2P4,PLD4,CDCA4,LINC02298,MIR6765,NUDT14,RPS20P33,CRIP2,CRIP1,ATP5MC1P1,ELK2BP,IGHA2,IGHE,IGHG4,MIR8071-1,MIR8071-2,IGHGP,ELK2AP,IGHA1,IGHEP1,IGHG3,IGHM,MIR4539,MIR4507,MIR4538,MIR4537,IGHJ6,IGHJ3P,IGHJ5,IGHJ4,IGHJ3,IGHJ2P,IGHJ2,IGHJ1,IGHD7-27,IGHJ1P,IGHD1-26,IGHD6-25,IGHD5-24,IGHD4-23,IGHD3-22,IGHD2-21,IGHD1-20,IGHD6-19,IGHD5-18,IGHD4-17,IGHD3-16,IGHD2-15,IGHD1-14,IGHD6-13,IGHD5-12,IGHD4-11,IGHD3-10,IGHD3-9,IGHD2-8,IGHD1-7,IGHD6-6,IGHD5-5,IGHD4-4,IGHD3-3,IGHD2-2,IGHD1-1,IGHV6-1,IGHVII-1-1,IGHV1-2,IGHVIII-2-1,IGHV1-3,IGHV4-4,IGHV7-4-1,IGHV2-5,IGHVIII-5-1,IGHVIII-5-2,IGHV3-6,IGHV3-7,IGHV3-64D,IGHV5-10-1,IGHV3-11,IGHVIII-11-1,IGHV1-12,IGHV3-13,IGHVIII-13-1,IGHV1-14,IGHV3-15,IGHVII-15-1,IGHV3-16,IGHVIII-16-1,IGHV1-17,SLC20A1P2,IGHV1-18,IGHV3-19,IGHV3-20,IGHV3-21,IGHV3-22,IGHVII-22-1,IGHVIII-22-2,IGHV3-23,IGHV1-24,HOMER2P2,LINC00226,IGHV3-25,IGHVIII-25-1,IGHV2-26,IGHVIII-26-1,IGHVII-26-2,IGHV7-27,IGHV4-28,IGHVII-28-1,IGHV3-32,IGHV3-30,IGHVII-30-1,IGHV3-30-2,IGHV4-31,IGHVII-30-21,IGHV3-29,IGHV3-33,IGHVII-33-1,IGHV3-33-2,IGHV4-34,IGHV7-34-1,IGHV3-35,IGHV3-36,IGHV3-37,IGHV3-38,IGHVIII-38-1,IGHV4-39,IGHV7-40,IGHVII-40-1,IGHV3-41,HOMER2P1,IGHV3-42,IGHV3-43,IGHVII-43-1,IGHVIII-44,IGHVIV-44-1,IGHVII-44-2,IGHV1-45,IGHV1-46,IGHVII-46-1,IGHV3-47,IGHVIII-47-1,IGHV3-48,IGHV3-49,IGHVII-49-1,IGHV3-50,IGHV5-51,IGHVIII-51-1,IGHVII-51-2,IGHV3-52,IGHV3-53,IGHVII-53-1,IGHV3-54,IGHV4-55,IGHV7-56,IGHV3-57,IGHV1-58,IGHV4-59,IGHV3-60,RNA5SP389,IGHVII-60-1,IGHV4-61,IGHVII-62-1,IGHV3-63,IGHV3-64,IGHV3-65,IGHVII-65-1,IGHV3-66,IGHV1-67,SLC20A1P1,IGHVII-67-1,IGHVIII-67-2,IGHVIII-67-3,IGHVIII-67-4,IGHV1-68,IGHV1-69,IGHV2-70D,IGHV3-69-1,IGHV1-69-2,IGHV1-69D,IGHV2-70,IGHV3-71,IGHV3-73,IGHV3-74,IGHVII-74-1,IGHV3-75,IGHV3-76,IGHVIII-76-1,MIR5195,IGHV5-78,WDR20,ZNF839,CINP,LINC02323,AMN,LBHD2,EXOC3L4,LINC00677,TNFAIP2,EIF5,TRMT61A,APOPT1,XRCC3,ZFYVE21,ATP5MPL,ASPG,KIF26A,INF2,SIVA1,AKT1,CEP170B,AHNAK2,GPR132,JAG2,TEX22,MTA1,TEDC1,TMEM121,IGHG1,IGHD,FAM30A,ADAM6,LINC00221,IGHV3-62,IGHV3-72,DYNC1H1,HSP90AA1,MOK,TECPR2,RCOR1,TRAF3,CDC42BPB,MARK3,KLC1,TDRD9,TMEM179,ADSSL1,CLBA1,BRF1,BTBD6,PACS2,IGHG2,PPP1R13B
prasad_12_ASD_discovery_cases-case90404
Unknown
Unknown
Unknown
BAG5,SNORA28,TRMT61A,EIF5,MIR4309,RCOR1,EXOC3L4,KIAA0125,TMEM179,XRCC3,LOC100131366,INF2,ASPG,AMN,CKB,SIVA1,ANKRD9,MIR203,CDC42BPB,MARK3,JAG2,C14orf153,TEX22,MTA1,ADAM6,TDRD9,TRAF3,TMEM121,CDCA4,TECPR2,KIF26A,NCRNA00226,NCRNA00221,NUDT14,AHNAK2,MGC23270,ADSSL1,BRF1,C14orf180,PACS2,C14orf79,PLD4,ZFYVE21,AKT1,C14orf80,KIAA0284,TNFAIP2,ZBTB42,PPP1R13B,GPR132,C14orf2,KLC1,BTBD6,CRIP1,CRIP2
yuen_17_ASD_discovery_cases-case1-0041-003
Affymetrix 6.0
De novo
Simplex
Segregated
RNU6-244P,ANKRD9,MIR4309,RN7SL546P,RPL23AP11,RNU6-1316P,RPL13P6,NDUFB4P11,RPL21P12,GCSHP2,LINC00605,RPL21P13,RAP2CP1,SNORA28,HMGB3P26,RPSAP5,RPL10AP1,CKB,RNU7-160P,BAG5,RNU4-68P,LINC00637,RD3L,RN7SL634P,MIR203A,MIR203B,RNU6-684P,CEND1P1,C14orf180,LINC02280,MIR4710,ZBTB42,LINC00638,RPS26P49,RPS2P4,PLD4,CDCA4,LINC02298,MIR6765,NUDT14,RPS20P33,CRIP2,CRIP1,ATP5MC1P1,ELK2BP,IGHA2,IGHE,IGHG4,MIR8071-1,MIR8071-2,IGHGP,ELK2AP,IGHA1,IGHEP1,IGHG3,IGHM,MIR4539,MIR4507,MIR4538,MIR4537,IGHJ6,IGHJ3P,IGHJ5,IGHJ4,IGHJ3,IGHJ2P,IGHJ2,IGHJ1,IGHD7-27,IGHJ1P,IGHD1-26,IGHD6-25,IGHD5-24,IGHD4-23,IGHD3-22,IGHD2-21,IGHD1-20,IGHD6-19,IGHD5-18,IGHD4-17,IGHD3-16,IGHD2-15,IGHD1-14,IGHD6-13,IGHD5-12,IGHD4-11,IGHD3-10,IGHD3-9,IGHD2-8,IGHD1-7,IGHD6-6,IGHD5-5,IGHD4-4,IGHD3-3,IGHD2-2,IGHD1-1,IGHV6-1,IGHVII-1-1,IGHV1-2,IGHVIII-2-1,IGHV1-3,IGHV4-4,IGHV7-4-1,IGHV2-5,IGHVIII-5-1,IGHVIII-5-2,IGHV3-6,IGHV3-7,IGHV3-64D,IGHV5-10-1,LINC02323,AMN,LBHD2,EXOC3L4,LINC00677,TNFAIP2,EIF5,TRMT61A,APOPT1,XRCC3,ZFYVE21,ATP5MPL,ASPG,KIF26A,INF2,SIVA1,AKT1,CEP170B,AHNAK2,GPR132,JAG2,TEX22,MTA1,TEDC1,TMEM121,IGHG1,IGHD,FAM30A,ADAM6,TECPR2,RCOR1,TRAF3,CDC42BPB,MARK3,KLC1,TDRD9,TMEM179,ADSSL1,CLBA1,BRF1,BTBD6,PACS2,IGHG2,PPP1R13B
Controls
No Control Data Available
No Animal Model Data Available