7q11.21-q11.22CNV Type: Deletion-Duplication
Largest CNV size: 6136128 bp
Statistics Box:
Number of Reports: 3
Number of Reports: 3
Summary Information
CNVs within this region, including two deletions affecting the AUTS2 gene, were identified in cases from two recent CNV reports (Kaminsky et al., 2011; Beunders et al., 2013).
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-Duplication
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
beunders_13_DD/ID/ASD_discovery_cases
Individuals from ten diagnostic centers in the Netherlands, Belgium, Great Britian, the United States, and Canada
49684
Intellectual disability and/or mulitple congenital anomalies
NA
NA
2865543
1
0
1
carvalho_22_DD/ID_discovery_cases
Individuals presenting with syndomic obesity, 15 of whom without previous CNV analysis, evaluated at the University of Sao Paulo (Sao Paulo, Brazil).
20
In addition to syndromic obesity, most cases presented with developmental delay/intellectual disability (DD/ID).
Range, 1.35-22.64 yrs. (mean, 9.9 5.3 SD)
80% Male
4430103
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
7591121
1
1
2
Controls
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
beunders_13_DD/ID/ASD_discovery_controls
Control cohort comprised of Ottawa Heart Institute (OHI) controls from Canada (n=1234), POPGEN controls from Germany (n=1123), SAGE controls from the United States (n=1287), Welcome Trust (WTCCC) controls (n=4783), HapMap Phase 3 controls (n=1056), Lowlands Consortium controls (n=981), and a combined adult controls set (HGDP, NINDS, and others; n=6239)
16784
Control
NA
NA
2865543
NA
NA
NA
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
beunders_13_DD/ID/ASD_discovery_cases
NA
aCGH, array SNP, solid phase hybridization
Multiple platforms including Agilent 105K/180K/244K, custom Roche Nimblegen 135K, Affymetrix 2.7M/6.0, Illumina Omni 2.5M, SignatureChipOS v2.0, & BlueGnome CytoChip ISCA 60K
FISH
carvalho_22_DD/ID_discovery_cases
Brazil
NGS
Illumina HiSeq
NA
BioDiscovery Nexus Copy Number v.9
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
Controls
Cohort ID
Geographical Ancestry
Discovery Method
Platform
Algorithm
Software
Validation Method
beunders_13_DD/ID/ASD_discovery_controls
NA
aCGH, array SNP, solid phase hybridization
Affymetrix 6.0, Illumina 1M, Illumina 240K-650K, Agilent 105K/185K
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
beunders_13_DD/ID/ASD_discovery_cases-case16
NA
M
DD/ID and/or MCA
Clinical profile: N/A
Cognitive profile: N/A
66968296
69833339
2865044
GRCh38
Deletion
Yes
carvalho_22_DD/ID_discovery_cases-case2
16.5 yrs.
M
Developmental delay
Birth/neonatal history: pregnancy complicated by maternal gestational diabetes and reduced fetal movements; birth weight 2.66 kg, length 45.5 cm, OFC 34 cm; neonatal hypotonia; suction deficit with need for tube feeding; neonatal hypoglycemia. Developmental milestones: motor delay. Language and communication evaluation: speech impairment. Motor and musculoskeletal evaluation: arthrosis in both knees; kyphosis; large arms; advanced bone age. Behavioral/psychiatric evaluation:. abnormal eating behavior (polyphagia, binge eating since 18 months, frequent vomiting); possible self-injurious behavior (skin lesions suggestive of self-harm and skin picking), stubbornness, episodes of aggressive behavior. Epilepsy/seizures: one episode of seizure without fever. Additional medical history: diabetes; excessive perspiration; vision problems; hypogenitalism (testicles not found by ultrasound); hepatomegaly and grade II liver steatosis; renal glomerular function preserved on the left and depressed on the right. Dysmorphic features: macrostomia, macrognathism, carp mouth, frontal bossing. Growth parameters: obesity (BMI Z-score 3.9). Family history: born to non-consanguineous parents; no family history of similar cases (the patient has a 7-year-old brother with partial paralysis due to neonatal anoxia and a healthy 12-year-old paternal half-brother).
66647743
71077845
4430103
GRCh38
Duplication
No
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000159
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
64657050
72243063
7586014
GRCh38
Deletion
Yes
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000454
NA
NA
Developmental delay/intellectual disability/ASD
Clinical profile NA
Cognitive profile NA
62570287
67823956
5253670
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
beunders_13_DD/ID/ASD_discovery_cases-case16
FISH
Unknown
Unknown
Unknown
RN7SL43P,MIR4650-1,SPDYE21P,PMS2P4,MTATP6P21,MTCO3P41,MTCO1P57,MTND4P3,RNA5SP231,RNU6-832P,MTCO2P25,MTCO1P25,RNU6-229P,SBDS,STAG3L4,AUTS2,TYW1
carvalho_22_DD/ID_discovery_cases-case2
Paternal
Simplex
RABGEF1,SBDS,TYW1,TMEM248,STAG3L4,KCTD7,SPDYE21,LINC02604,GTF2IRD1P1,CT66,MIR4650-1,MTND4P3,RNA5SP231,PMS2P4,GTF2IP23,RN7SL43P,RNU6-832P,RNU6-229P,MTATP6P21,MTCO1P25,MTCO3P41,MTCO2P25,RNU6-1254P,MTCO1P57,AUTS2
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000159
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
MIR6839,SEPHS1P1,VN1R42P,MTDHP1,RNU6-1229P,SNORA22C,SNORA15B-1,RSL24D1P3,CCT6P1,SNORA22,SNORA15B-2,RNU6-912P,RNU6-973P,RNU6-313P,GTF2IP9,SKP1P1,GS1-124K5.4,SAPCD2P3,RPL35P5,GTF2IP23,RNU6-1254P,RN7SL43P,MIR4650-1,SPDYE21P,PMS2P4,MTATP6P21,MTCO3P41,MTCO1P57,MTND4P3,RNA5SP231,RNU6-832P,MTCO2P25,MTCO1P25,RNU6-229P,MIR3914-1,MIR3914-2,RN7SKP75,RNA5SP232,ABCF2P2,ZNF107,BNIP3P11,ZNF138,EEF1DP4,ZNF117,ERV3-1,CCT6P3,GTF2IP14,ZNF92,GUSB,ASL,CRCP,KCTD7,GTF2IRD1P1,TMEM248,SBDS,STAG3L4,ZNF273,INTS4P1,INTS4P2,GTF2IP5,VKORC1L1,TPST1,LINC00174,RABGEF1,AUTS2,GALNT17,CALN1,TYW1
kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00000454
FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
Unknown
Unknown
Unknown
RNU6-417P,ZNF90P3,SAPCD2P4,PHKG1P1,ZNF733P,ARAFP3,VN1R31P,VN1R32P,SLC25A1P2,VN1R33P,ARAFP2,SEPT7P5,PHKG1P2,SLC29A4P2,MIR4283-2,CICP24,GABPAP,NMD3P1,SLC25A1P3,VN1R34P,ARAFP1,VN1R35P,VN1R36P,TRIM60P17,MTND4P2,MTND4LP2,MTND3P2,MTCO3P8,MTATP6P18,MTCO2P8,MTCO1P8,MTND1P2,VN1R37P,VN1R38P,SAPCD2P1,TRIM60P18,YWHAEP1,VN1R40P,ZNF680P1,HNRNPCP7,BNIP3P42,MIR6839,SEPHS1P1,VN1R42P,MTDHP1,RNU6-1229P,SNORA22C,SNORA15B-1,RSL24D1P3,CCT6P1,SNORA22,SNORA15B-2,RNU6-912P,RNU6-973P,RNU6-313P,GTF2IP9,SKP1P1,GS1-124K5.4,SAPCD2P3,RPL35P5,GTF2IP23,RNU6-1254P,RN7SL43P,MIR4650-1,SPDYE21P,PMS2P4,MTATP6P21,MTCO3P41,SEPT14P1,SEPT7P4,ZNF734P,LINC01005,ZNF727,GUSBP6,MTND2P4,ZNF735,ZNF679,ZNF736,ZNF680,ZNF107,BNIP3P11,ZNF138,EEF1DP4,ZNF117,ERV3-1,CCT6P3,GTF2IP14,ZNF92,GUSB,ASL,CRCP,KCTD7,GTF2IRD1P1,TMEM248,SBDS,STAG3L4,TNRC18P2,ZNF273,INTS4P1,INTS4P2,GTF2IP5,VKORC1L1,TPST1,LINC00174,RABGEF1,TYW1
Controls
No Control Data Available
No Animal Model Data Available