14q31.3-q32.31CNV Type: Deletion
Largest CNV size: 13300000 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A de novo 14q31.3-q32.31 deletion encompassing the YY1 gene was identified in an individual presenting with intrauterine growth retardation, hypotonia, feeding problems, hearing loss, dysmorphic features, and recurrent infections (Gabriele 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
YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction.
Deletion
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
gabriele_17_DD/ID_discovery_cases
Individuals with deletions encompassing the YY1 gene identified within the DECIPHER database and an in-house database containing data from over 8,000 individuals with intellectual disability
13
Recurrent phenotypes of individuals with YY1 deletions included developmental delay, intellectual disability, intrauterine growth retardation, feeding problems, and dysmorphic features
N/A
N/A
13300000
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
gabriele_17_DD/ID_discovery_cases-caseRUMC1
N/A
N/A
Hypotonia, IUGR, and dysmorphic features
Intrauterine growth retardation, hypotonia, feeding problems, hearing loss, dysmorphic features, recurrent infections
88083819
101362029
13278211
GRCh38
Deletion
Controls
No Control Data Available
Cases
Patient ID
Validation Description
Primary Disorder Inheritence
Inheritence
Family Profile
Disease Segregation
Gene Content
Altered Gene Expression
gabriele_17_DD/ID_discovery_cases-caseRUMC1
De novo
Likely segregated
RNU4-22P,RNU4-92P,MPPE1P1,CAP2P1,FOXN3-AS1,FOXN3-AS2,RN7SKP107,RN7SKP255,CHORDC2P,RAB42P1,GLRXP2,RPL21P11,LINC02317,LINC02321,RNU7-30P,SNORA11B,POLR3GP1,NANOGP7,NDUFB1,RNU6-366P,LINC02287,ITPK1-AS1,MOAP1,TMEM251,GON7,COX8C,RNU6-1258P,MIR4506,IFI27L2,SERPINA2,SERPINA11,SERPINA13P,RPSAP4,GSC,RPL15P2,MIR3173,LINC02292,SNHG10,SCARNA13,LINC02318,TCL1B,TCL1A,RNU2-33P,PEBP1P1,RPL23AP10,RN7SKP108,LINC02295,RN7SL714P,RPL3P4,RNU6-91P,RNU1-47P,VDAC3P1,MIR151B,MIR342,MIR6764,MIR345,SLC25A47,RN7SKP92,MIR2392,MIR770,MIR493,MIR337,MIR665,MIR431,MIR433,MIR127,MIR432,MIR136,SNORD112,MIR370,SNORD113-1,SNORD113-2,SNORD113-3,SNORD113-4,SNORD113-5,SNORD113-6,SNORD113-7,SNORD113-8,SNORD113-9,SNORD114-1,SNORD114-2,SNORD114-3,SNORD114-4,SNORD114-5,SNORD114-6,SNORD114-7,SNORD114-9,SNORD114-10,SNORD114-11,SNORD114-12,SNORD114-13,SNORD114-14,SNORD114-15,SNORD114-16,SNORD114-17,SNORD114-18,SNORD114-19,SNORD114-20,SNORD114-21,SNORD114-22,SNORD114-23,SNORD114-24,SNORD114-25,SNORD114-26,SNORD114-27,SNORD114-28,SNORD114-29,SNORD114-30,SNORD114-31,MIR379,MIR411,MIR299,MIR380,MIR1197,MIR323A,MIR758,MIR329-1,MIR329-2,MIR494,MIR1193,MIR543,MIR495,MIR376C,MIR654,MIR376B,MIR376A1,MIR300,MIR1185-1,MIR1185-2,MIR381HG,MIR381,MIR487B,MIR539,MIR889,MIR544A,MIR655,MIR487A,MIR382,MIR134,MIR668,MIR485,MIR323B,MIR154,MIR496,MIR377,MIR541,MIR409,MIR412,MIR369,MIR410,MIR656,SPATA7,TDP1,PSMC1,CALM1,LINC00642,GPR68,TC2N,ATXN3,LGMN,UBR7,PRIMA1,FAM181A-AS1,FAM181A,ASB2,CCDC197,OTUB2,DDX24,IFI27L1,SERPINA10,SERPINA6,SERPINA1,SERPINA9,SERPINA4,SERPINA5,SERPINA3,LINC02279,DICER1,GLRX5,TCL6,TUNAR,CKS1BP1,BDKRB1,GSKIP,PAPOLA,LINC02299,LINC00618,LINC02304,LINC02312,LINC01550,C14orf177,SETD3,CCDC85C,HHIPL1,CYP46A1,DEGS2,SLC25A29,RN7SL523P,WARS,BEGAIN,DLK1,RTL1,MIR376A2,MEG9,LINC02285,KCNK10,PTPN21,ZC3H14,EML5,TTC8,EFCAB11,NRDE2,TTC7B,RPS6KA5,DGLUCY,CCDC88C,PPP4R3A,CATSPERB,FBLN5,TRIP11,CPSF2,SLC24A4,RIN3,GOLGA5,CHGA,ITPK1,UNC79,IFI27,PPP4R4,SERPINA12,ADIPOR1P2,DICER1-AS1,CLMN,C14orf132,BDKRB2,ATG2B,VRK1,LINC02291,BCL11B,CCNK,EML1,EVL,YY1,WDR25,MEG3,MEG8,LINC01146,FOXN3,KCNK13,BTBD7,SYNE3,AK7,LINC02325,LINC00523
Controls
No Control Data Available
No Animal Model Data Available