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Report for Mutation A313G
 Developed by Shray Alag, 2020.
SNP Clinical Trial Gene 
There is one clinical trial. 
Clinical Trials
      A limited number of relatively contradictory studies have suggested that the development of
      serious ototoxicity in children treated with cisplatin or, more rarely, carboplatin could be
      partly related to genetic risk factors affecting detoxification enzymes and membrane
      transporters of platinum derivatives. The objective of this study is therefore to identify
      genetic variants associated with the development of platinum ototoxicity in patients treated
      with cisplatin or carboplatin (minimum follow-up of 3 years) for one of the following
      diseases: neuroblastoma, hepatoblastoma, retinoblastoma, malignant germ cell tumour,
      osteosarcoma, high-risk or recurrent Wilms' tumour, non-parameningealrhabdomyosarcoma. A
      total of 180 patients, corresponding to 60 cases with grade 3 or 4 ototoxicity and 120
      controls with no signs of ototoxicity (separate complete audiograms for each ear) will be
      included. A saliva sample will be used to obtain DNA for pharmacogenetic studies. The value
      of this study will be to define a population at high risk of developing ototoxicity in order
      to adapt treatment, or even develop preventive treatment of ototoxicity based on antioxidant
      medications
    
NCT02425397  Cancer in Children.  Hearing Loss  Genetic: Genetic study  Genetic: Genetic study MT-RN1 
An A/G
           polymorphism situated in the substrate binding domain of the GSTP1 isoenzyme in position
           +313 of exon 5 (A313G) induces substitution of a isoleucine by a valine (Ile105Val). --- A313G --- 
  Primary Outcomes 
 Measure: genetic factors (drug metabolism enzymes, membrane transporters) predisposing to cisplatin and carboplatin ototoxicity in children
 Time: Day 0
  Secondary Outcomes 
 Measure: genetic factors predisposing to aminoglycoside ototoxicity;
 Time: Day 0
 Measure: To provide a rationale for prevention of ototoxicity by the use of antioxidant medications.
 Time: Day 0
HPO Nodes
Genes 2020
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TRNP  FOXRED1  OTOF  ADAMTS3  USP9X  PCDH15  DKC1  TUBB3  TNC  PRPS1  POGZ  ATP6V1B2  NLRC4  NDUFB11  SLC10A7  SMARCE1  PAX2  XYLT2  RPGR  CREBBP  NDUFAF2  RPS6KA3  AP1S2  PPCS  OFD1  TBX22  GPSM2  GUCY2D  ERCC6  HOXB1  FGFR1  ANTXR1  DPF2  BAZ1B  EHMT1  KRAS  COA8  ECHS1  KIF7  PROK2  WFS1  MEOX1  MED12  RGR  NXN  ERCC3  ERCC2  SYT2  NEU1  SGMS2  RERE  DACT1  CHRNG  ATRX  FGF8  BAG3  SCAPER  SPNS2  FGFR2  NME8  CHRNG  ATP6V1B1  SMC3  DNAJC3  TCF12  SUCLG1  SALL4  PTPN11  PARN  ITGA2  RNF113A  ALG11  ARSA  PEX7  SQSTM1  MECP2  BTRC  FOXG1  CRYM  TWNK  OTOGL  TECTA  CEP78  MDH2  TRNK  NLRC4  PEX3  TRNH  PYCR2  GRXCR2  LHX3  RPL10  GMNN  TMEM38B  DEAF1  DUX4  BRAF  TRMU  FUCA1  LRP5  NDUFS2  UPF3B  OFD1  VPS37A  ABHD5  KARS1  LMX1B  TGFB1  TRIM32  ELMO2  ABHD12  ORC6  PEX26  ROM1  BUB3  RRM2B  COL11A1  TWIST1  COL25A1  AMMECR1  UGT1A1  NAA10  DNM1L  YME1L1  PEX6  LRAT  TCTN3  MSX1  WFS1  COLEC11  LIG4  DHODH  SRY  FEZF1  COL2A1  DNASE1L3  TP63  CAP2  FAM149B1  DUSP6  WDR11  FLNA  MARS2  DARS2  HGSNAT  PRPS1  SETBP1  COL2A1  TTN  SOST  TUBB4A  USP27X  DMXL2  HNF4A  TBX4  EDN1  BBS12  CHD7  FIG4  NIPAL4  USH2A  KCNJ11  MYO7A  GUCY2D  SLC4A11  DHODH  PEX13  TK2  C8ORF37  NDUFA2  GAA  TWIST2  FGFR2  OTUD6B  IFRD1  SLC39A14  ACTB  TRNS2  ERF  TNNT2  LMNB2  SMPX  MYH9  GDI1  PEX1  FKTN  FGFR2  PRDM16  SEMA4A  PIEZO1  PDZD7  DDX3X  PPP1R15B  RET  ABCD1  HDAC4  A2ML1  CHD7  MYO7A  NDUFAF6  PEX2  NAGA  NSUN2  ZNF513  SMARCB1  TRNS2  MFN2  NELFA  COL27A1  RNF135  NDUFV2  COL2A1  RDH5  COL9A1  CHCHD10  SIN3A  LIMK1  GALE  PEX1  FGFR2  CCDC28B  OTOA  DNAH1  SC5D  DHCR7  TULP1  WHRN  CHD7  ND1  ACOX1  KCNQ1  PROKR2  FLNB  PEX16  ZIC1  OPA1  CD109  TBX1  ZNF711  COL1A1  CNOT1  COQ8A  FGF8  SNRPB  NEK1  LAMA4  SLC26A4  ATP1A2  ALOX12B  PIK3R1  TRNL1  NOTCH3  SPRY4  KLLN  COL13A1  PEX6  ZMPSTE24  SEC23B  POMK  CIB2  SQSTM1  COL11A2  BCAP31  COX7B  SEMA3E  PRPS1  GDF5  PEX19  SALL1  CHD7  BRIP1  TCIRG1  NDUFB11  BBS4  MCM2  SOX3  TBC1D24  TWIST2  SDHB  MSTO1  CEP57  LHFPL5  DNAJB13  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