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Research Reports

Occurrence of MYOC and CYP1B1 variants in juvenile open angle glaucoma Brazilian patients

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Pages 717-724 | Received 10 Jul 2018, Accepted 04 Nov 2018, Published online: 28 Nov 2018

References

  • Kapetanakis VV, Chan MPY, Foster PJ, Cook DG, Owen CG, Rudnicka AR. Global variations and time trends in the prevalence of primary open angle glaucoma (POAG): a systematic review and meta-analysis. Br J Ophthalmol. 2016 Oct 1;100(1):86–93. doi:10.1136/bjophthalmol-2015-307223.
  • Kwun Y, Lee EJ, Han JC, Kee C. Clinical characteristics of juvenile-onset open angle glaucoma. Korean J Ophthalmol KJO. 2016 Apr; 30(2): 127–33. doi:10.3341/kjo.2016.30.2.127.
  • Wiggs JL, Pasquale LR. Genetics of glaucoma. Hum Mol Genet. 2017 Aug 1;26(R1):R21–7. doi:10.1093/hmg/ddx290.
  • Stone EM, Fingert JH, Alward WLM, Nguyen TD, Polansky JR, Sunden SLF, Nishimura D, Clark AF, Nystuen A, Nichols BE, et al. Identification of a gene that causes primary open angle glaucoma. Science. 1997 Jan 31;275(5300):668–70. doi:10.1126/science.275.5300.668.
  • Liu Y, Vollrath D. Reversal of mutant myocilin non-secretion and cell killing: implications for glaucoma. Hum Mol Genet. 2004 Jun 1;13(11):1193–204. doi:10.1093/hmg/ddh128.
  • Suntharalingam A, Abisambra JF, O’Leary JC, Koren J, Zhang B, Joe MK, Blair LJ, Hill SE, Jinwal UK, Cockman M, et al. Glucose-regulated protein 94 triage of mutant myocilin through endoplasmic reticulum-associated degradation subverts a more efficient autophagic clearance mechanism. J Biol Chem. 2012 Nov 23;287(48):40661–69. doi:10.1074/jbc.M112.384800.
  • Donegan RK, Hill SE, Freeman DM, Nguyen E, Orwig SD, Turnage KC, Lieberman RL. Structural basis for misfolding in myocilin-associated glaucoma. Hum Mol Genet. 2015 Apr 15;24(8):2111–24. doi:10.1093/hmg/ddu730.
  • Stoilov I, Akarsu AN, Sarfarazi M. Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet. 1997 Apr 1;6(4):641–47. doi:10.1093/hmg/6.4.641.
  • Stoilov IR, Costa VP, Vasconcellos JP, Melo MB, Betinjane AJ, Carani JC, Oltrogge EV, Sarfarazi M. Molecular genetics of primary congenital glaucoma in Brazil. Invest Ophthalmol Vis Sci. 2002 Jun;43(6):1820–27.
  • Melo MB, Mandal AK, Tavares IM, Ali MH, Kabra M, de Vasconcellos JP, Senthil S, Sallum JM, Kaur I, Betinjane AJ, et al. Genotype-phenotype correlations in CYP1B1-associated primary congenital glaucoma patients representing two large cohorts from India and Brazil. PLoS One. 2015 May 15;10(5):e0127147. doi:10.1371/journal.pone.0127147.
  • Li N, Zhou Y, Du L, Wei M, Chen X. Overview of cytochrome P450 1B1 gene mutations in patients with primary congenital glaucoma. Exp Eye Res. 2011 Nov; 93(5): 572–79. doi:10.1016/j.exer.2011.07.009.
  • Moore DB, Tomkins O, Ben-Zion I. A review of primary congenital glaucoma in the developing world. Surv Ophthalmol. 2013 Jun; 58(3): 278–85. doi:10.1016/j.survophthal.2012.11.003.
  • Melki R, Colomb E, Lefort N, Brézin AP, Garchon H-J. CYP1B1 mutations in French patients with early-onset primary open-angle glaucoma. J Med Genet. 2004 Sep 1;41(9):647–51. doi:10.1136/jmg.2004.020024.
  • Acharya M, Mookherjee S, Bhattacharjee A, Bandyopadhyay AK, Daulat Thakur SK, Bhaduri G, Sen A, Ray K. Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis. 2006 Apr 20;12:399–404.
  • Kumar A, Basavaraj MG, Gupta SK, Qamar I, Ali AM, Bajaj V, Ramesh TK, Prakash DR, Shetty JS, Dorairaj SK. Role of CYP1B1, MYOC, OPTN, and OPTC genes in adult-onset primary open-angle glaucoma: predominance of CYP1B1 mutations in Indian patients. Mol Vis. 2007 Apr 30;13:667–76.
  • Souzeau E, Hayes M, Zhou T, Siggs OM, Ridge B, Awadalla MS, Smith JEH, Ruddle JB, Elder JE, Mackey DA, et al. Occurrence of CYP1B1 mutations in juvenile open-angle glaucoma with advanced visual field loss. JAMA Ophthalmol. 2015 Jul 1;133(7):826–33. doi:10.1001/jamaophthalmol.2015.0980.
  • Vincent AL, Billingsley G, Buys Y, Levin AV, Priston M, Trope G, Williams-Lyn D, Héon E. Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene. Am J Hum Genet. 2002 Feb 1;70(2):448–60. doi:10.1086/340449.
  • Vasiliou V, Gonzalez FJ. Role of CYP1B1 in glaucoma. Annu Rev Pharmacol Toxicol. 2008;48(1):333–58. doi:10.1146/annurev.pharmtox.48.061807.154729.
  • Levkovitch-Verbin H, Quigley HA, Martin KRG, Valenta D, Baumrind LA, Pease ME. Translimbal laser photocoagulation to the trabecular meshwork as a model of glaucoma in rats. Invest Ophthalmol Vis Sci. 2002 Feb;43(2):402–10.
  • Sambrook J, Russell DW. Purification of nucleic acids by extraction with phenol: chloroform. Cold Spring Harb Protoc. 2006 Jun 1;2006(1):pdb.prot4455. doi:10.1101/pdb.prot4455.
  • Sim N-L, Kumar P, Hu J, Henikoff S, Schneider G, Ng PC. SIFT web server: predicting effects of amino acid substitutions on proteins. Nucleic Acids Res. 2012 Jul 1;40(W1):W452–7. doi:10.1093/nar/gks539.
  • Adzhubei IA, Schmidt S, Peshkin L, Ramensky VE, Gerasimova A, Bork P, Kondrashov AS, Sunyaev SR. A method and server for predicting damaging missense mutations. Nat Methods. 2010 Apr; 7(4): 248–49. doi:10.1038/nmeth0410-248.
  • Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014 Apr; 11(4): 361–62. doi:10.1038/nmeth.2890.
  • Pejaver V, Urresti J, Lugo-Martinez J, Pagel KA, Lin GN, Nam H-J, Mort M, Cooper DN, Sebat J, Iakoucheva LM, et al. MutPred2: inferring the molecular and phenotypic impact of amino acid variants. bioRxiv. 2017 May;9:134981.
  • Bendl J, Stourac J, Salanda O, Pavelka A, Wieben ED, Zendulka J, Brezovsky J, Damborsky J. PredictSNP: robust and accurate consensus classifier for prediction of disease-related mutations. PLoS Comput Biol Internet]. 2014 Jan 16;10(1). doi:10.1371/journal.pcbi.1003440.
  • Exome Aggregation Consortium, Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O’Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536(7616):285–91. doi:10.1038/nature19057.
  • Braghini CA, Neshich IAP, Neshich G, Soardi FC, de Mello MP, Costa VP, Jpc DV, de Melo MB. New mutation in the myocilin gene segregates with juvenile-onset open-angle glaucoma in a Brazilian family. Gene. 2013 Jul 1;523(1):50–57. doi:10.1016/j.gene.2013.02.054.
  • Fingert JH, Héon E, Liebmann JM, Yamamoto T, Craig JE, Rait J, Kawase K, Hoh ST, Buys YM, Dickinson J, et al. Analysis of myocilin mutations in 1703 glaucoma patients from five different populations. Hum Mol Genet. 1999 May; 8(5): 899–905. doi:10.1093/hmg/8.5.899.
  • Shimizu S, Lichter PR, Johnson AT, Zhou Z, Higashi M, Gottfredsdottir M, Othman M, Moroi SE, Rozsa FW, Schertzer RM, et al. Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma. Am J Ophthalmol. 2000 Aug; 130(2): 165–77. doi:10.1016/S0002-9394(00)00536-5.
  • Liu W, Liu Y, Challa P, Herndon LW, Wiggs JL, Girkin CA, Allingham RR, Hauser MA. Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma. Mol Vis. 2012;18:2241–46.
  • Michels-Rautenstrauss K, Mardin C, Wakili N, Jünemann AM, Villalobos L, Mejia C, Soley GC, Azofeifa J, Ozbey S, Naumann GOH, et al. Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients. Hum Mutat. 2002 Dec; 20(6): 479–80. doi:10.1002/humu.9092.
  • Melki R, Belmouden A, Brézin A, Garchon H-J. Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation. Hum Mutat. 2003 Aug; 22(2): 179. doi:10.1002/humu.9173.
  • Hewitt AW, Mackey DA, Craig JE. Myocilin allele-specific glaucoma phenotype database. Hum Mutat. 2008 Feb; 29(2): 207–11. doi:10.1002/humu.v29:2.
  • Morissette J, Clépet C, Moisan S, Dubois S, Winstall E, Vermeeren D, Nguyen TD, Polansky JR, Côté G, Anctil JL, et al. Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma. Nat Genet. 1998;19:319–21. doi:10.1038/1203.
  • Faucher M, Anctil J-L, Rodrigue M-A, Duchesne A, Bergeron D, Blondeau P, Côté G, Dubois S, Bergeron J, Arseneault R, et al. Founder TIGR/myocilin mutations for glaucoma in the Québec population. Hum Mol Genet. 2002 Sep 1;11(18):2077–90. doi:10.1093/hmg/11.18.2077.
  • Bruttini M, Longo I, Frezzotti P, Ciappetta R, Randazzo A, Orzalesi N, Fumagalli E, Caporossi A, Frezzotti R, Renieri A. Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma. Arch Ophthalmol. 2003 Jul; 121(7): 1034–38. doi:10.1001/archopht.121.7.1034.
  • Jacobson N, Andrews M, Shepard AR, Nishimura D, Searby C, Fingert JH, Hageman G, Mullins R, Davidson BL, Kwon YH, et al. Non-secretion of mutant proteins of the glaucoma gene myocilin in cultured trabecular meshwork cells and in aqueous humor. Hum Mol Genet. 2001 Jan 15;10(2):117–25. doi:10.1093/hmg/10.2.117.
  • Whigham BT, Williams SEI, Liu Y, Rautenbach RM, Carmichael TR, Wheeler J, Ziskind A, Qin X, Schmidt S, Ramsay M, et al. Myocilin mutations in black South Africans with POAG. Mol Vis. 2011 Apr;27(17):1064–69.
  • Williams SEI, Carmichael TR, Wainstein T, Hobbs A, Ramsay M. MYOC mutations in black South African patients with primary open-angle glaucoma: genetic testing and cascade screening. Ophthalmic Genet. 2015 Mar; 36(1): 31–38. doi:10.3109/13816810.2014.972520.
  • Mendoza-Reinoso V, Patil TS, Guevara-Fujita ML, Fernández S, Vargas E, Castillo-Herrera W, Perez-Grossmann R, Lizaraso-Caparó F, Richards JE, Fujita R. Novel and known MYOC exon 3 mutations in an admixed Peruvian primary open-angle glaucoma population. Mol Vis. 2012;18:2067–75.
  • Campos-Mollo E, López-Garrido M-P, Blanco-Marchite C, Garcia-Feijoo J, Peralta J, Belmonte-Martínez J, Ayuso C, Escribano J. CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. Mol Vis. 2009 Feb 23;15:417–31.
  • Pasutto F, Chavarria-Soley G, Mardin CY, Michels-Rautenstrauss K, Ingelman-Sundberg M, Fernández-Martínez L, Weber BHF, Rautenstrauss B, Reis A. Heterozygous loss-of-function variants in CYP1B1 predispose to primary open-angle glaucoma. Invest Ophthalmol Vis Sci. 2010 Jan; 51(1): 249–54. doi:10.1167/iovs.09-3880.
  • Stoilov I, Akarsu AN, Alozie I, Child A, Barsoum-Homsy M, Turacli ME, Or M, Lewis RA, Ozdemir N, Brice G, et al. Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet. 1998 Mar;62(3):573–84. doi:10.1086/301783.
  • Prokudin I, Simons C, Grigg JR, Storen R, Kumar V, Phua ZY, Smith J, Flaherty M, Davila S, Jamieson RV. Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. Eur J Hum Genet. 2014 Jul;22, 22(7, 7):907,907–15.
  • Vasconcellos JPC, Melo MB, Costa VP, Tsukumo DML, Bassères DS, Bordin S, Saad STO, Costa FF. Novel mutation in the MYOC gene in primary open angle glaucoma patients. J Med Genet. 2000 Apr 1;37(4):301–03.
  • de Vasconcellos JPC, de Melo MB, Schimiti R, Costa FF, Costa VP. Penetrance and phenotype of the Cys433Arg myocilin mutation in a family pedigree with primary open-angle glaucoma. J Glaucoma. 2003 Apr; 12(2): 104–07. doi:10.1097/00061198-200304000-00003.
  • Povoa CA, Malta RFS, Rezende MDM, de Melo KFS, Giannella-Neto D. Correlation between genotype and phenotype in primary open angle glaucoma of Brazilian families with mutations in exon 3 of the TIGR/MYOC gene. Arq Bras Oftalmol. 2006 Jun; 69(3): 289–97. doi:10.1590/S0004-27492006000300002.
  • Giolo SR, Soler JMP, Greenway SC, Almeida MAA, Andrade MD, Seidman JG, Seidman CE, Krieger JE, Pereira AC. Brazilian urban population genetic structure reveals a high degree of admixture. Eur J Hum Genet. 2011 Aug 24;20(1):ejhg2011144.
  • Dong S, Yang J, Yu W, Kota P, Xia X, Xu H. No association of genetic polymorphisms in CYP1B1 with primary open-angle glaucoma: a meta- and gene-based analysis. Mol Vis. 2012 Mar 31;18:786–96.
  • Jain A, Zode G, Kasetti RB, Ran FA, Yan W, Sharma TP, Bugge K, Searby CC, Fingert JH, Zhang F, et al. CRISPR-Cas9–based treatment of myocilin-associated glaucoma. Pnas. 2017 Oct 17;114(42):11199–204. doi:10.1073/pnas.1706193114.

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