SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation R76K

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Genetic Testing in Primary Congenital Glaucoma Patients

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.

NCT01136460
Conditions
  1. Congenital Glaucoma
MeSH:Glaucoma Hydrophthalmos
HPO:Buphthalmos Developmental glaucoma Glaucoma

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 --- --- R48G --- --- A119S --- --- L432V --- --- R76K ---

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


HP:0000501: Glaucoma
Genes 420
NR2E3 RPS19 WFS1 SUFU GLIS3 FBN1 LIMK1 PAX6 PRPF4 RP2 HLA-DRB1 POMT2 RNU4ATAC YARS2 AGK TEK BCOR PDE6B TOPORS GP1BB ARL2BP KIF11 WDR36 SEC24C PROM1 PXDN GNAQ CYP1B1 CDH11 ZEB1 C8ORF37 CYP1B1 PEX11B BBS2 FKRP WFS1 TMEM98 FKTN SUFU TRIP13 PEX13 LARGE1 ELN FBN1 OCRL ANKLE2 JMJD1C UFD1 DAG1 CANT1 CREBBP GMPPB NDP LMX1B SLC25A4 PDE6A GTF2I AKT1 CRB1 USH2A MYOC B3GALNT2 LTBP2 PCARE CRPPA CRYBA2 GZF1 PUS1 MAG ATRIP GATA1 PITX2 CCBE1 NHS COL11A1 ZNF469 TIMP3 CYP1B1 PIK3C2A RPE65 REEP6 PEX2 CRPPA RLBP1 RPL15 FKRP MFRP RPL35A POMGNT1 SAG RPS15A KMT2A ADAMTS10 PEX19 RAD21 SEMA4A ANTXR1 DSE ARL6 PEX1 PITX2 RPL26 B3GLCT CDHR1 PEX26 RPS27 PAX6 MYOC PCNT IDUA ROM1 CHST14 ZNF513 RP1 GJA1 NCAPG2 TULP1 IDUA IFIH1 FLNA CREBBP SPATA7 LARGE1 COL4A1 LTBP2 GJB4 IFIH1 CA4 NIPBL PRDM5 RXYLT1 WFS1 RP9 DDX58 PITX2 NDP TRIM44 RPS19 PEX3 MERTK GJA1 PRPF6 CRYBB3 OCRL RPGR FOXC1 PEX1 GUCA1B FAT4 CENPE RNASEH2C HDAC8 FAM50A PYCR1 FKRP PTCH2 TTC37 KIAA1549 FOXE3 ASB10 CCBE1 SKIV2L PAX6 RRM2B PEX6 COL11A1 BUB1B ADAMTSL1 SNRNP200 FOXC1 SMC1A B3GAT3 CNGB1 CLRN1 PIK3R1 FOXC1 TTC8 CYP1B1 RNASEH2B FKTN B3GALNT2 BTNL2 RPS29 BCOR CBS PRPH2 PTCH2 TSR2 RPL11 NOD2 RHOA SAMHD1 DHDDS CYP1B1 IDH3B EXOSC2 OPTN OVOL2 LARGE1 CHST14 PEX14 RBBP8 GNAQ CNGA1 PEX16 DHCR7 ZMIZ1 RPS26 BUB3 GJA1 MASP1 DAG1 GNAQ LRP5 RECQL4 ARL3 TUB CBS COL8A2 PLOD1 RPL5 ESCO2 COL4A1 NEK2 PRPF3 ADA2 RDH12 FBN1 IFT172 XYLT1 PEX10 CHST3 ARHGEF18 RREB1 COL2A1 FBN1 ABCA4 CEP57 LRAT IDUA ARVCF SH3PXD2B CLIP2 TBX1 BEST1 CRYAA SETD5 FOXC1 PRSS56 COX7B SCAPER PIK3R1 ZNF408 PTEN TRAIP BAZ1B LOXL1 ADAR PLK4 AGK RFC2 PRCD DHX38 B4GAT1 BEST1 POMT1 SLC7A14 OVOL2 RPS7 WT1 FKTN FAM161A SIX6 POMGNT1 VSX1 PTPN22 NTF4 PTCH1 LTBP2 POMT1 FBN1 CEP152 CCDC22 KDSR KIZ TRIM44 GRHL2 NLRP3 DAG1 MYMK FAS NHS COL11A1 CYP1B1 POMT2 PIK3C2A BEST1 NAA10 EP300 ZSWIM6 PITX2 POMGNT1 LTBP2 BCOR RS1 ZSWIM6 IMPG2 PAX6 MAB21L1 ARSB HCCS AGBL5 NDUFB11 RPL27 MAFA TKFC GJB3 MYOC AHR CRX POMK CRB1 WASHC5 PAX6 RPS24 FKTN ADAMTS17 RPL35 RPS17 FUT8 RNASEH2A COMT TBX1 IMPDH1 LTBP2 BBS1 GTF2IRD1 TEK PRPF31 KLHL7 ATR ADAMTS3 POMT2 FOXC1 TEK SMC3 POMT1 CCDC28B PEX12 NOD2 TGFB1 POMGNT2 SLC4A4 NRL PDE6G RBP3 EBP YAP1 STUB1 RASA1 CLN3 TWIST1 ATOH7 HGSNAT RPL31 CERKL PTCH1 PEX5 RPL18 RHO IDH3A ACVR1 RP1L1 EP300 TREX1 TBC1D20 ANTXR1 EYS BUB1 IFT88 ARL6 FREM2 CREBBP FGFR2 AHI1 NF1 PRPF8 IDUA POMT2 MAK SRY POMGNT1 RPS10 LMX1B CISD2 CHRDL1 FOXE3 OFD1 MAF CENPJ TBL2 B3GLCT BDNF WT1 RGR FSCN2 HIRA VCAN GSN DCN COL3A1 PLOD1 RPS28 SBF2 IFT140 COL18A1 PITX2 HLA-DRB1 ADAMTS10 CANT1