SNPMiner Trials (Home Page)
Report for Mutation R368H
 Developed by Shray Alag, 2020.
SNP Clinical Trial Gene 
There is one clinical trial. 
Clinical Trials
      Primary congenital glaucoma patients and their immediate relatives will undergo complete
      ophthalmic examination and an interview with a geneticist. A blood sample will be drown from
      all participants for DNA analysis.
      The CYP1B1 gene coding sequences will be screened for all individuals. If no mutation or only
      one heterozygous mutation will be found in the CYP1B1 gene, screening for MYOC gene mutations
      will be performed.
    
Jewish families had compound heterozygous mutations, i.e. an Ashkenazi family had mutations in the CYP1B1 gene (Arg368His and R48G, A119S and L432V haplotypes), and an Ashkenazi-Sephardic family had a mutation on the CYP1B1 gene (1908delA, Sephardic) with a second missense mutation on the MYOC gene (R76K, Ashkenazi). --- Arg368His --- 
  Primary Outcomes 
 Description: Mutations in the CYP1B1 gene were detected in 12 of 26 (46%) families with PCG (5 Muslim Arab, 5 Druze, 2 Jewish). Jewish families had compound heterozygous mutations, i.e. an Ashkenazi family had mutations in the CYP1B1 gene (Arg368His and R48G, A119S and L432V haplotypes), and an Ashkenazi-Sephardic family had a mutation on the CYP1B1 gene (1908delA, Sephardic) with a second missense mutation on the MYOC gene (R76K, Ashkenazi). Muslim Arabs and Druze tended to have a more severe phenotype than did the Jews.
 Measure: Mutations in the CYP1B1 gene
 Time: one year
HPO Nodes
Developmental glaucoma 
Genes 49
FKTN  LTBP2  CYP1B1  CANT1  CYP1B1  AKT1  LTBP2  GNAQ  FLNA  GLIS3  LARGE1  OCRL  ADAR  TREX1  PYCR1  RNASEH2C  POMT1  IFIH1  PITX2  ATOH7  RNASEH2A  FUT8  ADAMTSL1  DAG1  POMT2  FKRP  FOXC1  PAX6  SRY  POMGNT1  CYP1B1  TEK  PAX6  TWIST1  SH3PXD2B  PXDN  NCAPG2  MAB21L1  PTEN  POMT2  MAFA  FOXE3  RNASEH2B  FGFR2  CYP1B1  CHST3  RPS19  B3GAT3  SAMHD1   hr>
Glaucoma 
Genes 384
COL5A2  PEX1  PDE6A  IDH3A  TEK  YARS2  ANTXR1  POMT2  CANT1  BAZ1B  ZSWIM6  PCARE  BCOR  VCAN  RECQL4  SUFU  RP1  WFS1  IFT88  RBBP8  POMGNT1  PDE6B  RGR  TTC8  NLRP3  NEK2  RFC2  CA4  TREX1  WASHC5  PYCR1  POMGNT2  RHO  SCAPER  SNRNP200  FOXC1  PITX2  ATOH7  GSN  ATRIP  DAG1  DAG1  CRB1  EYS  FBN1  FOXC1  TBX1  GTF2IRD1  FAS  PRPF4  FOXE3  PEX19  FOXC1  ARL6  RDH12  POMGNT1  PAX6  SMC3  ARL3  WT1  KDSR  OCRL  GJB4  NDP  PTCH2  PLOD1  CCBE1  NR2E3  FBN1  SH3PXD2B  FOXC1  PEX3  CBS  CENPE  FOXE3  ARL2BP  AHR  PITX2  CYP1B1  PRPF31  TRAIP  PRCD  RLBP1  SETD5  WFS1  PIK3R1  CEP152  SLC4A4  PLOD1  PITX2  AGK  DCN  HIRA  MYOC  TRIP13  IDUA  B3GLCT  DHDDS  CDHR1  LARGE1  CLIP2  ACVR1  COL11A1  B4GAT1  IFT140  RP2  REEP6  FLNA  PTCH2  EP300  ELN  BUB1B  GLIS3  LARGE1  TRIM44  PRSS56  PRDM5  MYOC  CNGA1  LMX1B  PTPN22  NDP  SUFU  SBF2  PUS1  PEX26  LRP5  ROM1  BUB3  BBS2  COL11A1  KIF11  PEX5  IFIH1  IDUA  PRPF3  CLN3  FUT8  NAA10  EXOSC2  COL5A1  OPTN  LTBP2  TBL2  PRPH2  LRAT  BEST1  HDAC8  PAX6  YAP1  PIK3C2A  SRY  ARVCF  COL2A1  PRPF8  DDX58  B3GLCT  GUCA1B  FKTN  HCCS  PITX2  SEC24C  COL4A1  IDUA  RXYLT1  POMGNT1  PCNT  ADAMTS10  ASB10  CERKL  CYP1B1  CLRN1  PTCH1  TWIST1  KIAA1549  NCAPG2  MAB21L1  CHST14  JMJD1C  TOPORS  FKTN  FBN1  LARGE1  RASA1  COMT  IFIH1  UFD1  NF1  FAT4  ZSWIM6  TTC37  USH2A  POMT1  LTBP2  GTF2I  CYP1B1  C8ORF37  CRYBB3  CYP1B1  AKT1  LTBP2  FREM2  PEX14  ZNF469  PEX2  GNAQ  COL4A1  PEX10  PRPF6  ZNF408  COL2A1  PROM1  PEX1  BUB1  GNAQ  HGSNAT  XYLT1  PEX13  SEMA4A  BEST1  IDH3B  CYP1B1  TUB  PEX12  PAX6  KMT2A  ABCA4  ANTXR1  GP1BB  SKIV2L  POMT2  AGK  RNU4ATAC  RP9  FBN1  BCOR  GJA1  ZNF513  MYOC  CRX  STUB1  PAX6  NOD2  CRPPA  BDNF  NHS  KLHL7  RBP3  FKRP  CISD2  PAX6  LTBP2  PXDN  LIMK1  POMT2  GJB3  PEX11B  POMT1  RPE65  RNASEH2B  CCDC28B  CHST3  IDUA  CRPPA  MAK  RPS19  B3GALNT2  AHI1  IMPDH1  BEST1  TMEM98  AGBL5  DHCR7  NIPBL  TULP1  SMC1A  COL1A1  COX7B  TBC1D20  FKTN  DHX38  MFRP  HLA-DRB1  TRIM44  LTBP2  ARSB  FAM161A  NRL  NTF4  VHL  PITX2  ANKLE2  NHS  FOXC1  CBS  RAD21  CCBE1  SIX6  GJA1  PEX16  IMPG2  GNAQ  LMX1B  CENPJ  FKRP  OCRL  ADAR  HLA-DRB1  RREB1  MASP1  RNASEH2C  LOXL1  POMT1  PIK3R1  POMK  BBS1  TEK  CRYAA  ESCO2  TGFB1  GJA1  TIMP3  GMPPB  PEX6  RNASEH2A  COL2A1  ADAMTSL1  POMGNT1  PLK4  CCDC22  B3GALNT2  KIZ  ATR  CANT1  CRB1  ADAMTS3  WDR36  FKRP  ADAMTS17  RRM2B  WFS1  SPATA7  MERTK  BTNL2  OVOL2  POMT2  NDUFB11  GZF1  TEK  SLC7A14  CRYBA2  FKTN  CHRDL1  PTEN  PDE6G  MAFA  MYMK  ARHGEF18  SAG  RS1  CEP57  ADAMTS10  CREBBP  FGFR2  CDH11  COL11A1  COL3A1  EBP  TBX1  NOD2  SLC25A4  OFD1  MAG  FSCN2  B3GAT3  CYP1B1  PTCH1  IFT172  BCOR  WT1  SAMHD1  FBN1  RPGR  CNGB1   hr>