17q21.2-q21.32CNV Type: Duplication
Largest CNV size: 5622415 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo duplication within this locus was identified in a 2-year-old male patient presenting with global developmental delay and multiple congenital anomalies from a cohort of 573 individuals from North West Spain with developmental delay/intellectual disability (Quintela et al., 2017).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
No Major Reports
Minor Reports
Title
Author, Year
Report Class
CNV Type
Copy number variation analysis of patients with intellectual disability from North-West Spain.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
quintela_17_DD/ID_discovery_cases
Galician (NW Spain) patients recruited from the Complexo Hospitalario Universitario de Santiago de Compostela and referred to the Fundacion Publica Galega de Medicina Xenomica for genetic study
573
All participants had a clinical diagnosis of idiopathic intellectual disability (ID) or global developmental delay (DD) with or without another medical condition [e.g. autism spectrum disorder (ASD), attention deficit hyperactivity disorder (ADHD), epilepsy, dysmorphic features, and/or congenital anomalies]
Range, 3 months-18 years
60.38% Male
5622415
0
1
1
Controls
No Control Data Available
Cases
Patient ID
Author, Year
Age
Gender
Primary Diagnosis
Clinical Profile
Cognitive Profile
CNV Start
CNV End
CNV Size
Genome Build
Type Method
Validation
quintela_17_DD/ID_discovery_cases-caseID_580
2 yrs.
M
Developmental delay
Multiple congenital anomalies
Global developmental delay
41785215
47486515
5701301
GRCh38
Duplication
No
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
quintela_17_DD/ID_discovery_cases-caseID_580
De novo
Possibly segregated
FKBP10,KAT2A,HCRT,RNU7-97P,MIR548AT,MIR5010,PTP4A2P1,NAGLU,HSD17B1P1,MLX,PSMC3IP,ATP5MGP7,HMGB3P27,PLEKHH3,MIR6780A,HMGN2P15,RAMP2-AS1,COA3,MIR6781,AOC2,AOC3,AOC4P,RNU6-287P,RPL27,RND2,RPL21P4,TMEM106A,RNU2-1,RNU2-4P,RNU6-1137P,ARL4D,RNU6-470P,MIR2117,RNU6-406P,RNU6-971P,SOST,CFAP97D1,FAM215A,LINC01976,RNU6-131P,ASB16-AS1,ATXN7L3,MIR6782,SHC1P2,RN7SL507P,RNU6-453P,RUNDC3A,SLC25A39,FAM171A2,RPL7L1P5,RN7SL258P,FZD2,SMCO4P1,RN7SL819P,HIGD1B,RN7SL405P,CCDC103,FAM187A,MIR6783,C1QL1,MIR6784,HEXIM1,HEXIM2,SPATA32,RNA5SP443,MIR4315-1,RDM1P1,DND1P1,MAPK8IP1P2,RPS26P8,SPPL2C,MAPT-IT1,STH,KANSL1-AS1,MAPK8IP1P1,RN7SL656P,RDM1P2,RN7SL199P,FAM215B,RPS7P11,LINC01974,RNU6ATAC3P,MIR5089,RPRML,RN7SL270P,RNU7-186P,JUP,NT5C3B,KLHL10,KLHL11,ACLY,CNP,DNAJC7,NKIRAS2,C17orf113,DHX58,HSPB9,RAB5C,KCNH4,GHDC,STAT5A,CAVIN1,HSD17B1,COASY,TUBG1,TUBG2,CCR10,CNTNAP1,RAMP2,VPS25,WNK4,CNTD1,BECN1,PSME3,LINC00671,G6PC,PTGES3L-AARSD1,AARSD1,PTGES3L,IFI35,VAT1,NBR2,NBR1,MIR2117HG,ETV4,LINC02594,MPP3,CD300LG,PPY,PYY,NAGS,TMEM101,G6PC3,HDAC5,C17orf53,TMUB2,UBTF,SLC4A1,GRN,ITGA2B,LINC01180,MEIOC,CCDC43,DBF4B,ADAM11,EFTUD2,GFAP,KIF18B,DCAKD,PLCD3,ACBD4,FMNL1,MAP3K14-AS1,MAP3K14,ARHGAP27,LRRC37A4P,LINC02210,CRHR1,ARL17B,LRRC37A,WNT9B,LRRC37A17P,MYL4,ITGB3,EFCAB13,MRPL45P2,P3H4,ZNF385C,STAT5B,STAT3,ATP6V0A1,RETREG3,EZH1,BRCA1,CCDC200,LINC00910,DHX8,MEOX1,DUSP3,MPP2,ASB16,RUNDC3A-AS1,GPATCH8,GJC1,PLEKHM1,LINC02210-CRHR1,MAPT-AS1,MAPT,NSFP1,LRRC37A2,ARL17A,NSF,WNT3,GOSR2,THCAT158,RUNDC1,LSM12,NMT1,KANSL1,CDC27,TTC25
Controls
No Control Data Available
No Animal Model Data Available