The role of SIX6 gene in juvenile open-angle glaucoma: a subtle contributor to the mutational landscape

Alward WLM. The genetics of open-angle glaucoma: the story of GLC1A and myocilin. Eye. 2000;14:429–36.

Article  PubMed  Google Scholar 

Huang C, Xie L, Wu Z, Cao Y, Zheng Y, Pang CP, et al. Detection of mutations in MYOC, OPTN, NTF4, WDR36 and CYP1B1 in Chinese juvenile onset open-angle glaucoma using exome sequencing. Sci Rep. 2018;8:4498.

Article  PubMed  PubMed Central  Google Scholar 

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;6:641–7.

Article  CAS  PubMed  Google Scholar 

Yadav M, Bhardwaj A, Yadav A, Dada R, Tanwar M. Molecular genetics of primary open-angle glaucoma. Indian J Ophthalmol. 2023;71:1739–56.

Article  PubMed  PubMed Central  Google Scholar 

Yadav M, Tanwar M. Impact of COVID-19 on glaucoma management: a review. Front Ophthalmol. 2022. https://doi.org/10.3389/fopht.2022.1003653.

Article  Google Scholar 

Lam PY, Chow SC, Lai JSM, Choy BNK. A review on the use of telemedicine in glaucoma and possible roles in COVID-19 outbreak. Surv Ophthalmol. 2021;66:999–1008.

Article  PubMed  PubMed Central  Google Scholar 

Zukerman R, Harris A, Oddone F, Siesky B, Verticchio Vercellin A, Ciulla TA. Glaucoma heritability: molecular mechanisms of disease. Genes (Basel). 2021;12:1135.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Siesky B, Harris A, Carr J, Vercellin AV, Hussain R, Hembree PP, et al. Reductions in retrobulbar and retinal capillary blood flow strongly correlate with changes in optic nerve head and retinal morphology over four years in open-angle glaucoma patients of African descent compared to patients of European descent. J Glaucoma. 2016;25:750–7.

Article  PubMed  PubMed Central  Google Scholar 

Kwon YH, Fingert JH, Kuehn MH, Alward WLM. Primary open-angle glaucoma. N Engl J Med. 2009;360:1113–24.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Morissette J, Côté G, Anctil JL, Plante M, Amyot M, Héon E, Trope GE, Weissenbach J, Raymond V. A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q. Am J Hum Genet. 1995;56:1431–42.

CAS  PubMed  PubMed Central  Google Scholar 

Jonas JB, Gründler A. Optic disc morphology in juvenile primary open-angle glaucoma. Graefes Arch Clin Exp Ophthalmol. 1996;234:750–4.

Article  CAS  PubMed  Google Scholar 

Wolfs RC, Klaver CC, Ramrattan RS, van Duijn CM, Hofman A, de Jong PT. Genetic risk of primary open-angle glaucoma. Population-based familial aggregation study. Arch Ophthalmol. 1998;116:1640–5.

Article  CAS  PubMed  Google Scholar 

Gupta V, Somarajan BI, Gupta S, Chaurasia AK, Kumar S, Dutta P, et al. The inheritance of juvenile onset primary open angle glaucoma. Clin Genet. 2017;92:134–42.

Article  CAS  PubMed  Google Scholar 

Wiggs JL, Damji KF, Haines JL, Pericak-Vance MA, Allingham RR. The distinction between juvenile and adult-onset primary open-angle glaucoma. Am J Hum Genet. 1996;58:243–4.

CAS  PubMed  PubMed Central  Google Scholar 

Richards JE, Lichter PR, Boehnke M, Uro JL, Torrez D, Wong D, et al. Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq. Am J Hum Genet. 1994;54:62–70.

CAS  PubMed  PubMed Central  Google Scholar 

Selvan H, Gupta S, Wiggs JL, Gupta V. Juvenile-onset open-angle glaucoma—a clinical and genetic update. Surv Ophthalmol. 2022;67:1099–117.

Article  PubMed  Google Scholar 

Carnes MU, Liu YP, Allingham RR, Whigam BT, Havens S, Garrett ME, et al. Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma. PLoS Genet. 2014;10: e1004372.

Article  PubMed  Google Scholar 

Ramdas WD, van Koolwijk LME, Ikram MK, Jansonius NM, de Jong PTVM, Bergen AAB, et al. A genome-wide association study of optic disc parameters. PLoS Genet. 2010;6: e1000978.

Article  PubMed  PubMed Central  Google Scholar 

Wiggs JL, Yaspan BL, Hauser MA, Kang JH, Allingham RR, Olson LM, et al. Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma. PLoS Genet. 2012;8: e1002654.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Fan BJ, Wang DY, Pasquale LR, Haines JL, Wiggs JL. Genetic variants associated with optic nerve vertical cup-to-disc ratio are risk factors for primary open angle glaucoma in a US caucasian population. Invest Ophthalmol Vis Sci. 2011;52:1788.

Article  PubMed  PubMed Central  Google Scholar 

Osman W, Low SK, Takahashi A, Kubo M, Nakamura Y. A genome-wide association study in the Japanese population confirms 9p21 and 14q23 as susceptibility loci for primary open angle glaucoma. Hum Mol Genet. 2012;21:2836–42.

Article  CAS  PubMed  Google Scholar 

Ramdas WD, van Koolwijk LM, Lemij HG, Pasutto F, Cree AJ, Thorleifsson G, et al. Common genetic variants associated with open-angle glaucoma. Hum Mol Genet. 2011;20:2464–71.

Article  CAS  PubMed  Google Scholar 

Yadav M, Kumar M, Dhull CS, Sachdeva S, Bhardwaj A, Yadav A, et al. Identification and structural analysis of pathogenic variants in MYOC and CYP1B1 genes in Indian JOAG patients. Jpn J Ophthalmol. 2025;69:469–81.

Article  PubMed  Google Scholar 

Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. 2nd ed. Cold Spring Harbor: Cold Spring Harbor Laboratory; 1989.

Google Scholar 

Ioannidis NM, Rothstein JH, Pejaver V, Middha S, McDonnell SK, Baheti S, et al. Revel: an ensemble method for predicting the pathogenicity of rare missense variants. Am J Hum Genet. 2016;99:877–85.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Rentzsch P, Witten D, Cooper GM, Shendure J, Kircher M. CADD: predicting the deleteriousness of variants throughout the human genome. Nucl Acids Res. 2019;47:D886–94.

Article  CAS  PubMed  Google Scholar 

Tanwar M, Dada T, Sihota R, Das TK, Yadav U, Dada R. Mutation spectrum of CYP1B1 in North Indian congenital glaucoma patients. Mol Vis. 2009;15:1200–9.

CAS  PubMed  PubMed Central  Google Scholar 

Tanwar M, Dada T, Sihota R, Dada R. Identification of four novel cytochrome P4501B1 mutations (p.I94X, p.H279D, p.Q340H, and p.K433K) in primary congenital glaucoma patients. Mol Vis. 2009;15:2926–37.

CAS  PubMed  PubMed Central  Google Scholar 

Schwarz JM, Cooper DN, Schuelke M, Seelow D. MutationTaster2: mutation prediction for the deep-sequencing age. Nat Methods. 2014;11:361–2.

Article  CAS  PubMed  Google Scholar 

Cheng J, Randall A, Baldi P. Prediction of protein stability changes for single-site mutations using support vector machines. Proteins. 2006;62:1125–32.

Article  CAS  PubMed  Google Scholar 

Pejaver V, Urresti J, Lugo-Martinez J, Pagel KA, Lin GN, Nam HJ, et al. Inferring the molecular and phenotypic impact of amino acid variants with MutPred2. Nat Commun. 2020;11:5918.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Emsley P, Lohkamp B, Scott WG, Cowtan K. Features and development of Coot. Acta Cryst D. 2010;66:486–501.

Article 

Comments (0)

No login
gif