4q13.3-q22.3CNV Type: Deletion
Largest CNV size: 21631348 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo deletion encompassing this region was identified in a patient with agenesis of the corpus callosum, cerebellar hypoplasia, polymicrogyria, seizures, and developmental delay (Sajan et al., 2013).
Additional Locus Information
References
Major Reports
Title
Author, Year
Report Class
CNV Type
Both rare and de novo copy number variants are prevalent in agenesis of the corpus callosum but not in cerebellar hypoplasia or polymicrogyria.
Deletion
Minor Reports
Title
Author, Year
Report Class
CNV Type
No Minor Reports
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
sajan_13_ACC/CBLH/PMG_discovery_cases
Individuals with severe congenital brain malformations [agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG)] and additional neurodevelopmental phenotypes
487
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and/or polymicrogyria (PMG); additional diagnoses of autism spectrum disorder (ASD), developmental delay (DD), intellectual disability (ID) and/or seizures in some patients
N/A
N/A
21631348
1
0
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
sajan_13_ACC/CBLH/PMG_discovery_cases-case1412-0
N/A
N/A
ACC-CBLH-PMG
Diagnosis of agenesis of the corpus callosum (ACC), cerebellar hypoplasia (CBLH), and polymicrogyria (PMG). ASD: unknown. Seizures: yes.
Developmental delay: yes. Intellectual disability: unknown.
73537073
95112827
21575755
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
sajan_13_ACC/CBLH/PMG_discovery_cases-case1412-0
qPCR
De novo
Unknown
Unknown
CXCL8,PPBPP1,PF4V1,CXCL1,HNRNPA1P55,CXCL1P1,PF4,PPBP,CXCL5,RN7SL218P,CXCL3,PPBPP2,CXCL2,EPGN,HSPE1P23,LINC02562,LINC02483,RNU2-16P,STBD1,SNX5P1,RNU6-1000P,RNU6-145P,MIR4450,MIR548AH,SOWAHB,TXNP6,RPL7P17,RNU6-1187P,HMGB1P44,HNRNPA1P56,SERBP1P5,HIGD1AP13,RN7SL127P,GK2,OR7E94P,KPNA2P1,RPSAP39,RNU5A-2P,MTCYBP44,NPM1P41,HNRNPA3P13,RNU6-499P,BIN2P1,IGBP1P4,RPL7AP26,LINC00575,MIR575,THAP9-AS1,RNU6-615P,SLC25A14P1,RPL30P5,RNU6-774P,RPL3P13,RN7SL552P,RNU6-469P,RN7SKP48,MIR4451,RN7SKP96,MIR4452,GAPDHP60,MIR5705,RN7SL681P,DSPP,CHCHD2P7,HSP90AB3P,RNU1-36P,RNU6-818P,RNU6ATAC31P,RNU6-1298P,RNU6-112P,NCOA4P2,PIGY,RN7SKP244,RNU6-33P,NAP1L5,RNU6-907P,SNCA-AS1,RN7SKP248,TMSB4XP8,KRT19P6,PMPCAP1,MTND1P19,RNA5SP164,ATOH1,HMGB3P15,RASSF6,CXCL6,EREG,BTC,THAP6,ODAPH,G3BP2,NAAA,SDAD1,CXCL9,CXCL11,NUP54,SCARB2,FAM47E,SEPT11,MRPL1,ANXA3,LINC01094,PCAT4,PRDM8,FGF5,BMP3,HNRNPD,HNRNPDL,TMEM150C,THAP9,COPS4,COQ2,HPSE,HELQ,MRPS18C,GPAT3,NKX6-1,CDS1,WDFY3-AS2,SLC10A6,C4orf36,TECRP1,HSD17B13,HSD17B11,SPARCL1,DMP1,IBSP,MEPE,SPP1,PKD2,PPM1K,HERC6,PYURF,FAM13A-AS1,TIGD2,HPGDS,BMPR1B-DT,MTHFD2L,PARM1,CDKL2,USO1,PPEF2,ART3,CXCL10,FAM47E-STBD1,CCDC158,CCNI,CCNG2,CNOT6L,FRAS1,BMP2K,PAQR3,LINC01088,NAA11,LINC00989,ANTXR2,PRKG2,COX5BP1,VAMP9P,ENOPH1,SCD5,LIN54,PLAC8,ABRAXAS1,WDFY3-AS1,MAPK10,PTPN13,KLHL8,NUDT9,ABCG2,HERC5,HERC3,FAM13A,GPRIN3,SNCA,MMRN1,SMARCAD1,PDLIM5,BMPR1B,AREG,SHROOM3,CXCL13,LINC02469,CFAP299,RASGEF1B,SEC31A,WDFY3,ARHGAP24,AFF1,CCSER1,GRID2,RCHY1,LNCPRESS2
Controls
No Control Data Available
No Animal Model Data Available