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Report for Mutation L432V

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 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


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
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