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Report for Clinical Trial NCT01136460

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

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


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

Time Perspective: Retrospective

Case-Only


There are 5 SNPs

SNPs


1 A119S

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 ---


2 L432V

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 ---


3 R368H

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 ---


4 R48G

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 ---


5 R76K

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 ---



HPO Nodes


HPO:
HP:0000501: Glaucoma
Genes 386
COL2A1 HGSNAT RP1 PEX13 NAA10 TRAIP POMT2 COL1A1 TRIM44 PEX1 PEX6 TTC37 POMGNT1 MAK IFT172 BEST1 FSCN2 CRX SETD5 BUB1 BBS2 CRB1 CHRDL1 LARGE1 OCRL PEX12 MAFA IDUA DAG1 RP9 DSE WT1 RECQL4 WFS1 NTF4 PTCH2 GLIS3 ACVR1 LTBP2 COL11A1 CHST14 HDAC8 PEX2 TBX1 PEX11B LTBP2 PRPF4 CRYAA TUB VCAN ZSWIM6 POMK RHO LOXL1 KMT2A RBBP8 AKT1 CYP1B1 FKRP OPTN WDR36 SAG PITX2 USH2A UFD1 PRPF6 PITX2 LRP5 RNASEH2A CNGA1 B3GLCT MERTK LTBP2 PXDN YAP1 TEK ARHGEF18 IDH3B DDX58 PRPF3 SLC7A14 NDP MYOC VHL NDUFB11 NDP JMJD1C ANTXR1 CBS EBP FAT4 MYOC COX7B WT1 FOXC1 FUT8 PTPN22 NCAPG2 CCBE1 HLA-DRB1 FAS PTEN ARSB TWIST1 ATR PEX19 SCAPER PRCD SEC24C SMC1A PCARE B3GLCT NF1 FREM2 LTBP2 POMT1 DHDDS AGK ADAMTS3 GJA1 ZNF513 FBN1 OCRL TEK ZNF469 GUCA1B POMGNT1 YARS2 COL5A2 IDUA POMT1 FOXE3 CHST3 PLOD1 PAX6 SUFU COMT FBN1 GJA1 PITX2 ROM1 C8ORF37 ANKLE2 POMT1 PDE6B CCDC22 BEST1 AGK PEX5 PDE6G LARGE1 NOD2 MAG RXYLT1 PITX2 RGR PAX6 PEX3 TREX1 PROM1 SEMA4A PEX10 FKRP ARL6 CANT1 NHS ASB10 ABCA4 ELN TULP1 TGFB1 CBS REEP6 B3GALNT2 RREB1 BUB3 SRY LMX1B PTCH1 FKTN DHX38 MASP1 BCOR POMT2 GJB4 XYLT1 HLA-DRB1 COL2A1 RP2 RLBP1 WASHC5 GP1BB PUS1 CEP57 RFC2 POMT2 FOXE3 PEX1 FOXC1 WFS1 EP300 ADAMTS10 FGFR2 IFIH1 FKTN STUB1 ARL3 IFT88 OFD1 PAX6 CYP1B1 B3GAT3 PIK3R1 RDH12 SUFU SLC4A4 BEST1 IDUA SMC3 IDH3A PEX26 POMGNT1 PITX2 FKTN CISD2 MAB21L1 CYP1B1 B4GAT1 TBC1D20 FBN1 LIMK1 TBL2 RNASEH2B ARL2BP IMPG2 BDNF RBP3 KIZ PRPF8 TOPORS TMEM98 GJB3 GMPPB RPGR FKTN ESCO2 ADAMTSL1 GSN KIF11 EXOSC2 FAM161A PEX14 CYP1B1 WFS1 CRPPA IFIH1 PTCH2 CYP1B1 HIRA PIK3C2A CCBE1 SIX6 RAD21 BBS1 TIMP3 COL2A1 NOD2 POMGNT1 CLIP2 LARGE1 DAG1 ANTXR1 NIPBL NR2E3 PYCR1 KIAA1549 KLHL7 ADAMTS10 BUB1B CNGB1 COL4A1 PRSS56 ADAR AGBL5 COL11A1 DHCR7 FBN1 CA4 KDSR NLRP3 SH3PXD2B ADAMTS17 PLK4 IDUA EYS LMX1B NEK2 COL4A1 NHS CERKL FLNA RRM2B BCOR RASA1 BCOR SKIV2L FOXC1 CLN3 COL3A1 CHST14 GNAQ PRDM5 CCDC28B PIK3R1 ZSWIM6 ZNF408 TRIP13 CRYBA2 CANT1 FKRP CDHR1 PRPF31 TRIM44 TEK PCNT PAX6 GJA1 ARVCF GTF2I CRPPA MYMK LRAT RS1 OVOL2 PRPH2 RNASEH2C COL5A1 MYOC BTNL2 CLRN1 GNAQ NRL PDE6A RNU4ATAC RPS19 TBX1 HCCS CENPJ GZF1 FBN1 CRB1 TTC8 SAMHD1 ATOH7 CENPE RPE65 CEP152 DCN AHI1 SPATA7 BAZ1B SNRNP200 CDH11 CYP1B1 AHR COL11A1 PEX16 POMGNT2 LTBP2 ATRIP PAX6 POMT2 SLC25A4 PLOD1 IMPDH1 IFT140 B3GALNT2 FOXC1 SBF2 FOXC1 MFRP GTF2IRD1 GNAQ PTCH1 CREBBP CRYBB3