17p12-q11.2CNV Type: Duplication
Largest CNV size: 12682417 bp
Statistics Box:
Number of Reports: 1
Number of Reports: 1
Summary Information
A duplication within this region were identified as part of a study of patients with genomic rearrangements that duplicated the RAI1 and PMP22 genes; the patient with this duplication presented with developmental delay (Yuan et al., 2015).
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
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Duplication
Cases
Cohort ID
Author, Year
Descripton
Cohort Size
Diagnosis
Age
Gender
CNV Size
Deletion
Duplication
Total CNV's
yuan_15_DD_discovery_cases
Subjects with genomic rearrangements that simultaneously duplicate PMP22 and RAI1 from an initial cohort of 127 subjects with proximal 17p duplications encompassing RAI1
23
Clinical records of 17/23 subjects were available for review; most consistently reported clinical features were feeding difficulties, global developmental delay, behavioral difficulties, and language delay.
N/A
N/A
12682417
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
yuan_15_DD_discovery_cases-caseBAB6504
3.5 yrs.
M
Developmental delay
Infancy: feeding difficulties, failure to thrive, infantile hypotonia. Development: developmental delay, language delay; age at walking and behavioral difficulties not reported. Clinical neuropathy/exercise intolerance not reported. Sleep disturbance not reported. Physical features: foot deformities, generalized hypotonia, increased tone on left arm and leg; facial dysmorphism, unusual gait/dropped foot, sensory loss, and reduced/absent ankle deep tendon reflexes not reported. Studies and imaging: MRI brain abnormality; syringomyelia, renal abnormalities, median nerve motor nerve conduction velocity, and median nerve distal compound muscle action potential not reported.Case CNV pattern: complex genomic rearrangment (duplication-normal-copy segment-duplication).
13922122
28180829
14258708
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
yuan_15_DD_discovery_cases-caseBAB6504
De novo
CDRT15,MGC12916,RPS18P12,RPL23AP76,CDRT7,MIR4731,RNU6-799P,RN7SL792P,RPL9P2,PPIAP53,ZNF29P,UBE2SP1,CDRT15P2,ZSWIM5P1,RNA5SP436,IL6STP1,MEIS3P1,RPLP1P11,RPL22P21,RNU6-314P,RNU6-862P,RN7SL442P,MIR1288,UBB,FTLP12,SNORD49B,SNORD49A,SNORD65,NEK4P2,RNASEH1P2,RNU6-405P,RN7SL620P,UPF3AP1,SRP68P1,NOS2P4,KRT16P6,KRT16P2,KRT17P4,COTL1P1,LINC02090,MPRIP-AS1,RNU6-767P,RN7SL775P,ACTG1P24,TSEN15P1,RASD1,RNU6-468P,SMCR2,SMCR5,MIR6777,MIR33B,MIEF2,RPL7AP65,RPL21P121,MIR6778,LINC02076,KRT17P5,YWHAEP2,KRT17P2,KRT16P1,TNPO1P2,SRP68P2,FOXO3B,UBE2SP2,RN7SL627P,SNORD3B-1,SNORD3B-2,KYNUP2,SNORD3D,SNORD3A,SNORD3C,KYNUP3,MIR1180,MFAP4,LINC02094,RPS2P46,SNORA59B,MTND1P14,NMTRQ-TTG12-1,MTND2P12,MTCO1P39,NDUFB4P3,KCTD9P1,RNU6-258P,RNU6-1057P,RNU6-467P,UPF3AP2,SRP68P3,LINC01984,TNPO1P3,YWHAEP3,KRT16P5,KRT16P3,KRT17P7,COTL1P2,CDRT15L2,ZSWIM5P2,MEIS3P2,RNFT1P3,HNRNPA1P19,OLA1P2,SCDP1,RNU6-1178P,RNASEH1P1,SPECC1P2,RN7SL426P,EIF1P5,PDLIM1P2,RPL21P120,KCNJ18,FTLP13,FAM27E5,MTCYBP13,MTRNR2L1,MTND1P15,MTND2P13,NMTRS-TGA3-1,MTATP6P3,MTCO3P13,PDLIM1P3,VN1R71P,RPL34P31,RPS16P8,MIR4522,SYPL1P2,ITM2BP1,CPDP1,RPS29P22,HS3ST3B1,LINC02096,CDRT8,PMP22,TVP23C,TRIM16,ZNF286A,TBC1D26,LINC02087,ADORA2B,TTC19,CENPV,TRPV2,LRRC75A,ZNF287,USP32P1,KRT17P1,TBC1D27P,TNFRSF13B,PLD6,FLCN,COPS3,NT5M,RPL13P12,MED9,RAI1-AS1,DRC3,ATPAF2,GID4,MYO15A,ALKBH5,LLGL1,FLII,TOP3A,SMCR8,EVPLL,TBC1D3P4,KRT16P4,NOS2P2,FAM106A,USP32P2,TBC1D28,ZNF286B,TRIM16L,FBXW10,TVP23B,FAM83G,GRAP,KYNUP1,EPN2-AS1,B9D1,MAPK7,RNF112,RPL17P43,SLC47A1P1,SLC47A1P2,SLC47A2,ALDH3A1,CCDC144CP,USP32P3,LGALS9B,KRT17P6,TBC1D3P3,LINC02088,USP22,LINC01563,DHRS7B,TMEM11,NATD1,MAP2K3,KCNJ12,NCOR1P2,LINC02002,GTF2IP6,TUFMP1,WSB1,TBC1D3P5,LGALS9,LGALS9DP,LYRM9,LINC01992,COX10-AS1,CDRT15P1,COX10,TEKT3,CDRT4,TVP23C-CDRT4,CDRT1,SPECC1P1,ZSWIM7,NCOR1,PIGL,ZNF624,MPRIP,PEMT,RAI1,TOM1L2,DRG2,SHMT1,LGALS9C,CCDC144B,SLC5A10,GRAPL,EPN2,SLC47A1,ALDH3A2,ULK2,SPECC1,NOS2P3,ABHD17AP6,CCDC144NL,C17orf51,UBBP4,FLJ36000,KSR1,NOS2P1,NOS2,NLK,SREBF1,PRPSAP2,AKAP10,CCDC144NL-AS1,CCDC144A
Controls
No Control Data Available
No Animal Model Data Available