SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation L432V

Developed by Shray Alag, 2020-2021.
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 ---

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 424
MERTK VCAN RPS7 SUFU B3GLCT PAX6 TREX1 GTF2IRD1 TRIM44 SLC7A14 RP1 POMT1 BBS1 PUS1 SLC25A4 CYP1B1 PDE6A CNGB1 ARVCF PITX2 ZNF408 POMGNT1 RPS15A PLOD1 ANTXR1 PIK3C2A RREB1 AKT1 TOPORS PIK3C2A VSX1 RBP3 ANTXR1 FOXC1 PEX11B SAG FKTN MFRP DCN PLOD1 POMT2 SUFU BUB1B PEX13 B3GLCT FKRP CLIP2 ADAMTS10 TBC1D20 NF1 PIK3R1 HIRA GP1BB B3GALNT2 TKFC PIK3R1 OFD1 SEC24C ELN ASB10 PTEN BEST1 TULP1 CYP1B1 COL3A1 ARSB RXYLT1 FOXC1 PRDM5 GLIS3 SNRNP200 MAB21L1 COL11A1 ADAMTSL1 RPL27 ATOH7 RBBP8 RPL11 PITX2 NOD2 COL11A1 LTBP2 GJA1 CREBBP ADAMTS3 GJA1 RP9 IFT88 CBS PEX2 DAG1 TTC37 RHO CLN3 RPL15 TIMP3 FKTN ARL3 NF1 RPGR ADA2 IFIH1 PEX19 DAG1 PDE6B CHST14 LTBP2 FLNA ZNF513 PEX26 FKTN FOXE3 OCRL RPL35 PAX6 SRY CYP1B1 CENPJ NDUFB11 XYLT1 IDUA RLBP1 SIX6 NCAPG2 GSN FAM161A EXOSC2 NOD2 ROM1 GJA1 POMT2 SLC4A4 CRB1 TTC8 TREX1 IFIH1 IDH3B CCBE1 NTF4 GJB4 BEST1 NLRP3 BEST1 KMT2A ZNF469 POMGNT2 MASP1 RP2 CBS RPS19 PEX3 IMPDH1 ZSWIM6 LTBP2 DHDDS MYOC MAG RPL18 B3GAT3 PAX6 RPE65 OVOL2 PEX1 SPATA7 CCBE1 FOXC1 NHS PLK4 RNASEH2B FKTN PTCH2 SKIV2L ARHGEF18 MAF PAX6 DHCR7 GMPPB WT1 CREBBP CANT1 WDR36 PEX6 CEP57 LRP5 TEK KLHL7 RAD21 SEMA4A IDUA USH2A ZSWIM6 PITX2 CERKL PAX6 RNASEH2A ADAMTS10 FKRP PRPF8 PTCH2 RPS19 RPL26 CDHR1 CDH11 STUB1 ADAMTS17 CENPE EYS IDUA BCOR COL8A2 TEK PEX14 CEP152 CLRN1 PEX16 NIPBL GNAQ RPS28 DSE PEX1 MYMK GRHL2 MYOC DHX38 IFT172 ZEB1 RPS26 EBP POMT2 ARL2BP PRCD RPS17 PRPH2 NEK2 LMX1B CANT1 PEX10 REEP6 JMJD1C RECQL4 CHRDL1 COL2A1 CREBBP AGBL5 BUB1 PROM1 TBX1 TBL2 TBX1 BBS2 TMEM98 FKRP HCCS COL11A1 TGFB1 IFT140 ATRIP RFC2 RNASEH2C LIMK1 TRAIP ABCA4 IDH3A EP300 B3GALNT2 POMGNT1 KIZ RPS10 BDNF COL4A1 IMPG2 YAP1 CYP1B1 FAS COL18A1 WFS1 ZMIZ1 PTCH1 MYOC PCNT KDSR RHOA TUB CISD2 FOXC1 CRYBB3 OVOL2 CHST3 LARGE1 FREM2 RS1 ESCO2 AGK PRSS56 IDUA BCOR NDP LOXL1 PITX2 OPTN DDX58 LARGE1 RRM2B POMGNT1 POMT2 PDE6G WFS1 RNU4ATAC CHST14 GZF1 AHI1 COX7B RPL31 YARS2 PXDN B3GALT6 GJB3 FAM50A RP1L1 NDP CRB1 B4GAT1 CNGA1 CCDC22 PITX2 RPL5 RPS27 RPS24 RPL35A SAMHD1 UFD1 LTBP2 HGSNAT TREX1 FBN1 BCOR CCDC28B GTF2I LMX1B CRPPA CYP1B1 PRPF3 GNAQ GUCA1B FBN1 NHS FAT4 POMT1 LTBP2 FBN1 SETD5 POMGNT1 FUT8 ARL6 PEX12 SBF2 CRPPA KIF11 PTPN22 NR2E3 PCARE MAK POMK SMC1A CRYBA2 POMT1 OCRL TEK TWIST1 SMC3 FBN1 FSCN2 GATA1 CA4 PTCH1 PEX5 TSR2 PRPS1 RGR AHR ACVR1 PRPF4 ADAR HDAC8 COL4A1 FOXC1 LRAT MAFA GNAQ FBN1 BUB3 NAA10 SCAPER CRX EP300 FGFR2 KIAA1549 TRIP13 TRIM44 PRPF31 HLA-DRB1 PRPF6 AGK HLA-DRB1 RPS29 WFS1 NRL ATR PYCR1 BAZ1B FOXE3 WT1 SH3PXD2B RDH12 ARL6 COMT WASHC5 C8ORF37 LARGE1 DAG1 CRYAA CYP1B1 BTNL2 ANKLE2