SNPMiner Trials: Mutation Report
Report for Mutation R368H
Developed by Shray Alag, 2019.
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
Genes 40
POMT2 GLIS3 RNASEH2B DAG1 PYCR1 IFIH1 POMGNT1 CYP1B1 FLNA TREX1 AKT1 SRY SH3PXD2B SAMHD1 ADAMTSL1 LTBP2 FGFR2 GNAQ OCRL PAX6 POMT1 PXDN PTEN FUT8 TEK CANT1 ADAR RNASEH2A ATOH7 FKTN FKRP B3GAT3 RNASEH2C FOXC1 MAFA TWIST1 PITX2 CHST3 FOXE3 LARGE1 Genes 285
MAG SPATA7 CERKL CYP1B1 PRPF31 LRAT TREX1 IFT140 MASP1 ARL2BP MAK AHI1 ABCA4 PDE6A CENPJ PDE6G IMPDH1 ATR STUB1 DDX58 CHST14 CENPE PDE6B ATOH7 MYOC GJB4 IFT172 KIZ CDHR1 SMC1A HLA-DRB1 TRAIP DHX38 MAFA HDAC8 NAA10 DAG1 PEX1 BBS1 PEX6 BBS2 PEX10 PEX12 PEX13 DHDDS PEX14 PTPN22 SRY PRPF6 NDP RXYLT1 ACVR1 AGBL5 PEX11B PTCH1 RREB1 PTEN BCOR MFRP DCN ANKLE2 ADAR TRIP13 RS1 TUB BDNF B3GAT3 TULP1 HIRA RNU4ATAC TWIST1 TBC1D20 OVOL2 NOD2 XYLT1 ARL6 IFIH1 TTC8 GJA1 PROM1 FREM2 NEK2 ZNF469 GJB3 SAG FBN1 NF1 PXDN ATRIP CANT1 PIK3C2A KLHL7 WASHC5 REEP6 FKTN FAM161A YAP1 PIK3R1 CLN3 ASB10 DHCR7 RNASEH2C RECQL4 UFD1 BUB1 PITX2 BUB1B PITX3 SCAPER PEX19 PEX16 ADAMTS17 FSCN2 AHR PEX2 PRCD MYMK PEX5 PYCR1 ANTXR1 KMT2A CHRDL1 NHS AKT1 FGFR2 GNAQ SEMA4A MERTK POMK GMPPB PLOD1 USH2A CLRN1 CNGB1 CNGA1 NIPBL TBX1 FOXC1 KIF11 CA4 IMPG2 GP1BB CHST3 COL1A1 FOXE3 RAD21 COL2A1 COL3A1 COL4A1 POMT2 RNASEH2B VHL COL5A1 COL5A2 NDUFB11 FLNA BEST1 FAT4 NR2E3 ADAMTSL1 COL11A1 B3GLCT CCDC22 WDR36 COMT OFD1 B4GAT1 RASA1 SLC25A4 ADAMTS3 NRL CLIP2 CISD2 RNASEH2A FKRP WFS1 RBBP8 NTF4 RRM2B B3GALNT2 PEX3 PRSS56 RBP3 HGSNAT GLIS3 WT1 COX7B KIAA1549 BAZ1B RDH12 POMGNT1 PRPH2 ARHGEF18 CRPPA PCARE SAMHD1 ZSWIM6 OCRL POMT1 IDH3B RFC2 GTF2IRD1 IDUA PRPF8 TEK FAS PRDM5 CBS CREBBP RGR EXOSC2 SLC7A14 JMJD1C NLRP3 PEX26 RHO CRB1 YARS2 CRX SIX6 ESCO2 TGFB1 CRYAA RLBP1 ADAMTS10 CRYBA2 CRYBB3 LIMK1 EYS SH3PXD2B ARL3 OPTN GTF2I ARSB GZF1 POMGNT2 SEC24C GUCA1B IFT88 ARVCF SMC3 TMEM98 TIMP3 PRPF4 PRPF3 SETD5 LMX1B CCBE1 ZNF408 BTNL2 VCAN SBF2 EBP PTCH2 PUS1 AGK LRP5 ROM1 CEP152 RP9 LTBP2 RP1 ELN RP2 RPGR PAX6 C8ORF37 SLC4A4 BUB3 TOPORS FUT8 KDSR SUFU CEP57 RPE65 HCCS SNRNP200 PLK4 TRIM44 TBL2 CDH11 EP300 PCNT ZNF513 LARGE1