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7q31.1-q31.33CNV Type: Deletion


Largest CNV size: 11099382 bp

Statistics Box:
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

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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

Minor Reports

Title
Author, Year
Report Class
CNV Type
NA
Deletion
The diagnostic yield of intellectual disability: combined whole genome low-coverage sequencing and medical exome sequencing
Deletion

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
 11099382
 1
 0
 1
 maini_18_ASD/DD/ID_discovery_cases
  NA NA
 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
 12600000
 1
 0
 1
 wang_20_ID_discovery_cases
 Patients recruited from the Department of Neurology, Affiliated Childrens Hospital of the Capital Institute of Pediatrics (Beijing, China) between Jan. 2016.01 and Dec. 2018.
 95
 All cases presented with intellectual disability (ID); 52 patients had ID with multiple congenital anomalies, and 14 patients had ID with autism spectrum disorder
 Range, 1 yr. 1 mo.-16 yrs.
 68.0% Male
 11620002
 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
 wang_20_ID_discovery_cases
  Han Chinese
 WGS
  Illumina HiSeq 2000
 
 Short Oligonucleotide Analysis Package (SOAP) v.2.21
 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
  kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001606
 NA
 NA
 Developmental delay/intellectual disability/ASD
 Clinical profile NA
 Cognitive profile NA
 113799835
 124899218
  11099384
 GRCh38
 Deletion
 Yes
  maini_18_ASD/DD/ID_discovery_cases-case172
  NA NA
 7 yrs.
 M
 Dysmorphic features and MCA
 Birth history: born at 39 weeks gestation, no reported pregnancy anomalies. Developmental milestones: no motor or language delay. Language and communication evaluation: language disorder. Musculoskeletal evaluation: chest asymmetry, 5th finger clinodactyly. Behavioral/psychiatric evaluation: behavioral anomalies. Epilepsy/abnormal EEG: no reported epilepsy or EEG abnormalities. Additional medical history: respiratory malformations, ocular anomalies, skin anomalies, skin softness/joint laxity. Dysmorphic features: ears with protruding helices. Growth parameters: microcephaly, normal growth. Family history: negative for consanguineity, positive for familiarity, family history positive for NDDs.
 Normal (no intellectual disability or learning disorder)
 114245419
 126859791
  12614373
 GRCh38
 Deletion
 No
  wang_20_ID_discovery_cases-case3
 7 yrs.
 M
 Intellectual disability
 Asophia, simian crease, facial abnormality
 Intellectual disability
 114259945
 125879946
  11620002
 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
 kaminsky_11_DD/ID/ASD_discovery_cases-ISCA00001606
 FISH, qPCR, MLPA, aCGH, or standard G-banded chromosome analysis
 
 Unknown
 Unknown
 Unknown
 RNA5SP238,MIR3666,RAC1P6,SNORA25B,RNA5SP239,ST7-AS1,TPM3P1,MIR6132,MTND4P6,MTCYBP6,CFTR-AS1,LSM8,GTF3AP6,RNU1-29P,RNU6-581P,RNA5SP240,HMGN1P18,RNA5SP241,RNU6-517P,CYCSP19,RN7SKP277,PNPT1P2,RNU7-154P,RPS26P31,RNF133,RNF148,TAS2R16,LYPLA1P1,RNU6-296P,LMOD2,RNU6-11P,HYAL6P,TMEM229A,SSU72P8,RNU6-102P,TES,CAV1,ST7-AS2,ASZ1,ING3,WNT16,AASS,FEZF1,FEZF1-AS1,SLC13A1,NDUFA5,SPAM1,GPR37,PPP1R3A,MDFIC,LINC01392,LINC01393,TFEC,LINC01510,MET,CAPZA2,ST7,ST7-OT4,WNT2,CFTR,CTTNBP2,LINC02476,TSPAN12,CPED1,FAM3C,PTPRZ1,IQUB,ASB15,HYAL4,POT1,FOXP2,CAV2,ANKRD7,KCND2,CADPS2,WASL,C7orf77
 
 maini_18_ASD/DD/ID_discovery_cases-case172
 
 
 Unknown
 Not simplex
 Unknown
 RNA5SP238,MIR3666,RAC1P6,SNORA25B,RNA5SP239,ST7-AS1,TPM3P1,MIR6132,MTND4P6,MTCYBP6,CFTR-AS1,LSM8,GTF3AP6,RNU1-29P,RNU6-581P,RNA5SP240,HMGN1P18,RNA5SP241,RNU6-517P,CYCSP19,RN7SKP277,PNPT1P2,RNU7-154P,RPS26P31,RNF133,RNF148,TAS2R16,LYPLA1P1,RNU6-296P,LMOD2,RNU6-11P,HYAL6P,TMEM229A,SSU72P8,RNU6-102P,EEF1GP1,TES,CAV1,ST7-AS2,ASZ1,ING3,WNT16,AASS,FEZF1,FEZF1-AS1,SLC13A1,NDUFA5,SPAM1,GPR37,MDFIC,LINC01392,LINC01393,TFEC,LINC01510,MET,CAPZA2,ST7,ST7-OT4,WNT2,CFTR,CTTNBP2,LINC02476,TSPAN12,CPED1,FAM3C,PTPRZ1,IQUB,ASB15,HYAL4,POT1,POT1-AS1,FOXP2,CAV2,ANKRD7,KCND2,CADPS2,WASL,C7orf77,GRM8
 
 wang_20_ID_discovery_cases-case3
 
 
 Unknown
 Unknown
 Unknown
 RNA5SP238,MIR3666,RAC1P6,SNORA25B,RNA5SP239,ST7-AS1,TPM3P1,MIR6132,MTND4P6,MTCYBP6,CFTR-AS1,GTF3AP6,RNU1-29P,RNU6-581P,RNA5SP240,HMGN1P18,RNA5SP241,RNU6-517P,CYCSP19,RN7SKP277,PNPT1P2,RNU7-154P,RPS26P31,RNF133,RNF148,TAS2R16,LYPLA1P1,RNU6-296P,LMOD2,RNU6-11P,HYAL6P,TMEM229A,SSU72P8,RNU6-102P,EEF1GP1,LINC02830,PPIAP93,TES,CAV1,ST7-AS2,ASZ1,LSM8,ING3,WNT16,AASS,FEZF1,FEZF1-AS1,SLC13A1,NDUFA5,SPAM1,GPR37,MDFIC,LINC01393,LINC01392,TFEC,COMETT,MET,CAPZA2,ST7,ST7-OT4,WNT2,CTTNBP2,TSPAN12,CPED1,FAM3C,PTPRZ1,IQUB,ASB15,ASB15-AS1,HYAL4,POT1,POT1-AS1,FOXP2,CAV2,ANKRD7,LINC02476,KCND2,CADPS2,WASL,C7orf77,CFTR,ANKRD49P4
 

Controls

No Control Data Available
No Animal Model Data Available
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