References
Abu-Amero, K. K.,Osman, E. A.,Mousa, A.,Wheeler, J.,Whigham, B.,Allingham, R. R.,Hauser, M. A., & Al-Obeidan, S. A. (2011). Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation. Mol Vis ,17 , 2911-2919. https://doi.org/315
Alsaif, H. S.,Khan, A. O.,Patel, N.,Alkuraya, H.,Hashem, M.,Abdulwahab, F.,Ibrahim, N.,Aldahmesh, M. A., & Alkuraya, F. S. (2019). Congenital glaucoma and CYP1B1: an old story revisited. Hum Genet ,138 (8-9), 1043-1049. https://doi.org/10.1007/s00439-018-1878-z
Bayat, B.,Yazdani, S.,Alavi, A.,Chiani, M.,Chitsazian, F.,Tusi, B. K.,Suri, F.,Narooie-Nejhad, M.,Sanati, M. H., & Elahi, E. (2008). Contributions of MYOC and CYP1B1 mutations to JOAG. Mol Vis ,14 , 508-517.
Bayram, Y.,Pehlivan, D.,Karaca, E.,Gambin, T.,Jhangiani, S. N.,Erdin, S.,Gonzaga-Jauregui, C.,Wiszniewski, W.,Muzny, D.,Elcioglu, N. H.,Yildirim, M. S.,Bozkurt, B.,Zamani, A. G.,Boerwinkle, E.,Gibbs, R. A., & Lupski, J. R. (2014). Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome. Am J Med Genet A , 164A (9), 2328-2334. https://doi.org/10.1002/ajmg.a.36678
Bozkurt, B.,Yildirim, M. S.,Okka, M., & Bitirgen, G. (2013). GAPO syndrome: four new patients with congenital glaucoma and myelinated retinal nerve fiber layer. Am J Med Genet A , 161A (4), 829-834. https://doi.org/10.1002/ajmg.a.35734
Cascella, R.,Strafella, C.,Germani, C.,Novelli, G.,Ricci, F.,Zampatti, S., & Giardina, E. (2015). The genetics and the genomics of primary congenital glaucoma. Biomed Res Int2015 , 321291. https://doi.org/10.1155/2015/321291
Chakrabarti, S.,Kaur, K.,Kaur, I.,Mandal, A. K.,Parikh, R. S.,Thomas, R., & Majumder, P. P. (2006). Globally, CYP1B1 Mutations in Primary Congenital Glaucoma Are Strongly Structured by Geographic and Haplotype Backgrounds. Investigative Ophthalmology & Visual Science ,47 (1), 43-47. https://doi.org/10.1167/iovs.05-0912
Chen, Y.,Jiang, D.,Yu, L.,Katz, B.,Zhang, K.,Wan, B., & Sun, X. (2008). CYP1B1 and MYOC mutations in 116 Chinese patients with primary congenital glaucoma. Arch Ophthalmol , 126 (10), 1443-1447. https://doi.org/126/10/1443
Ferre-Fernández, J.-J.,Aroca-Aguilar, J.-D.,Medina-Trillo, C.,Bonet-Fernández, J.-M.,Méndez-Hernández, C.-D.,Morales-Fernández, L.,Corton, M.,Cabañero-Valera, M.-J.,Gut, M.,Tonda, R.,Ayuso, C.,Coca-Prados, M.,García-Feijoo, J., & Escribano, J. (2017). Whole-Exome Sequencing of Congenital Glaucoma Patients Reveals Hypermorphic Variants in GPATCH3, a New Gene Involved in Ocular and Craniofacial Development. Scientific Reports , 7 (1), 46175. https://doi.org/10.1038/srep46175
Gagliardi, A. R.,Gonzalez, C. H., & Pratesi, R. (1984). GAPO syndrome: report of three affected brothers. Am J Med Genet , 19 (2), 217-223. https://doi.org/10.1002/ajmg.1320190203
Garcia-Castellanos, R.,Nielsen, N. S.,Runager, K.,Thogersen, I. B.,Lukassen, M. V.,Poulsen, E. T.,Goulas, T.,Enghild, J. J., & Gomis-Ruth, F. X. (2017). Structural and Functional Implications of Human Transforming Growth Factor beta-Induced Protein, TGFBIp, in Corneal Dystrophies. Structure , 25 (11), 1740-1750 e1742. https://doi.org/S0969-2126(17)30292-7
Goloni-Bertollo, E. M.,Ruiz, M. T.,Goloni, C. B.,Muniz, M. P.,Valerio, N. I., & Pavarino-Bertelli, E. C. (2008). GAPO syndrome: three new Brazilian cases, additional osseous manifestations, and review of the literature. Am J Med Genet A , 146A (12), 1523-1529. https://doi.org/10.1002/ajmg.a.32157
Goyal, N.,Gurjar, H.,Sharma, B. S.,Tripathi, M., & Chandra, P. S. (2014). GAPO syndrome with pansutural craniosynostosis leading to intracranial hypertension. BMJ Case Rep , 2014 . https://doi.org/bcr-2013-201727
Gupta, V.,Somarajan, B. I.,Walia, G. K.,Kaur, J.,Kumar, S.,Gupta, S.,Chaurasia, A. K.,Gupta, D.,Kaushik, A.,Mehta, A., & Sharma, A. (2018). Role of CYP1B1, p.E229K and p.R368H mutations among 120 families with sporadic juvenile onset open-angle glaucoma. Graefes Arch Clin Exp Ophthalmol , 256 (2), 355-362. https://doi.org/10.1007/s00417-017-3853-0
Ilker, S. S.,Ozturk, F.,Kurt, E.,Temel, M.,Gul, D., & Sayli, B. S. (1999). Ophthalmic findings in GAPO syndrome. Jpn J Ophthalmol ,43 (1), 48-52. https://doi.org/S0021515598000586
Jiang, X., & Zhang, H. (2021). Deterioration of Avellino corneal dystrophy in a Chinese family after LASIK. Int J Ophthalmol ,14 (6), 795-799. https://doi.org/10.18240/ijo.2021.06.02
Kim, J. E.,Han, M. S.,Bae, Y. C.,Kim, H. K.,Kim, T. I.,Kim, E. K., & Kim, I. S. (2007). Anterior segment dysgenesis after overexpression of transforming growth factor-beta-induced gene, beta igh3, in the mouse eye. Mol Vis , 13 , 1942-1952. https://doi.org/v13/a219
Klintworth, G. K.,Bao, W., & Afshari, N. A. (2004). Two mutations in the TGFBI (BIGH3) gene associated with lattice corneal dystrophy in an extensively studied family. Invest Ophthalmol Vis Sci ,45 (5), 1382-1388. https://doi.org/10.1167/iovs.03-1228
Knight, L. S. W.,Ruddle, J. B.,Taranath, D. A.,Goldberg, I.,Smith, J. E. H.,Gole, G.,Chiang, M. Y.,Willett, F.,D’Mellow, G.,Breen, J.,Qassim, A.,Mullany, S.,Elder, J. E.,Vincent, A. L.,Staffieri, S. E.,Kearns, L. S.,Mackey, D. A.,Luu, S.,Siggs, O. M.,Souzeau, E., & Craig, J. E. (2021). Childhood and Early Onset Glaucoma Classification and Genetic Profile in a Large Australasian Disease Registry. Ophthalmology ,128 (11), 1549-1560. https://doi.org/S0161-6420(21)00288-8
Kocabay, G., & Mert, M. (2009). GAPO syndrome associated with dilated cardiomyopathy: an unreported association. Am J Med Genet A ,149A (3), 415-416. https://doi.org/10.1002/ajmg.a.32638
Lakshminarayanan, R.,Chaurasia, S. S.,Anandalakshmi, V.,Chai, S. M.,Murugan, E.,Vithana, E. N.,Beuerman, R. W., & Mehta, J. S. (2014). Clinical and genetic aspects of the TGFBI-associated corneal dystrophies. Ocul Surf , 12 (4), 234-251. https://doi.org/S1542-0124(14)00125-6
Liu, Y.,Munro, D.,Layfield, D.,Dellinger, A.,Walter, J.,Peterson, K.,Rickman, C. B.,Allingham, R. R., & Hauser, M. A. (2011). Serial analysis of gene expression (SAGE) in normal human trabecular meshwork.Mol Vis , 17 , 885-893. https://doi.org/99
Mackay, D. S.,Bennett, T. M., & Shiels, A. (2015). Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma. PLoS One ,10 (7), e0132529. https://doi.org/10.1371/journal.pone.0132529
Manouvrier-Hanu, S.,Largilliere, C.,Benalioua, M.,Farriaux, J. P., & Fontaine, G. (1987). The GAPO syndrome. Am J Med Genet ,26 (3), 683-688. https://doi.org/10.1002/ajmg.1320260323
Mullaney, P. B.,Jacquemin, C.,al-Rashed, W., & Smith, W. (1997). Growth retardation, alopecia, pseudoanodontia, and optic atrophy (GAPO syndrome) with congenital glaucoma. Arch Ophthalmol ,115 (7), 940-941. https://doi.org/10.1001/archopht.1997.01100160110028
Pang, C. P.,Fan, B. J.,Canlas, O.,Wang, D. Y.,Dubois, S.,Tam, P. O.,Lam, D. S.,Raymond, V., & Ritch, R. (2006). A genome-wide scan maps a novel juvenile-onset primary open angle glaucoma locus to chromosome 5q.Mol Vis , 12 , 85-92. https://doi.org/v12/a9
Quinodoz, M.,Peter, V. G.,Bedoni, N.,Royer Bertrand, B.,Cisarova, K.,Salmaninejad, A.,Sepahi, N.,Rodrigues, R.,Piran, M.,Mojarrad, M.,Pasdar, A.,Ghanbari Asad, A.,Sousa, A. B.,Coutinho Santos, L.,Superti-Furga, A., & Rivolta, C. (2021). AutoMap is a high performance homozygosity mapping tool using next-generation sequencing data. Nat Commun , 12 (1), 518. https://doi.org/10.1038/s41467-020-20584-4
Rim, P. H., & Marques-de-Faria, A. P. (2005). Ophthalmic aspects of GAPO syndrome: case report and review. Ophthalmic Genet ,26 (3), 143-147. https://doi.org/LQ8L22N53744224K
Saeedi, O.,Yousaf, S.,Tsai, J.,Palmer, K.,Riazuddin, S., & Ahmed, Z. M. (2018). Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma. Genes (Basel) ,9 (11). https://doi.org/genes9110527
Sayli, B. S., & Gul, D. (1993). GAPO syndrome in three relatives in a Turkish kindred. Am J Med Genet , 47 (3), 342-345. https://doi.org/10.1002/ajmg.1320470309
Siggs, O. M.,Souzeau, E.,Taranath, D. A.,Dubowsky, A.,Chappell, A.,Zhou, T.,Javadiyan, S.,Nicholl, J.,Kearns, L. S., & Staffieri, S. E. (2020). Biallelic CPAMD8 variants are a frequent cause of childhood and juvenile open-angle glaucoma. Ophthalmology , 127 (6), 758-766.
Song, Y.,DiMaio, F.,Wang, R. Y.,Kim, D.,Miles, C.,Brunette, T.,Thompson, J., & Baker, D. (2013). High-resolution comparative modeling with RosettaCM. Structure , 21 (10), 1735-1742. https://doi.org/S0969-2126(13)00297-9
Stranecky, V.,Hoischen, A.,Hartmannova, H.,Zaki, M. S.,Chaudhary, A.,Zudaire, E.,Noskova, L.,Baresova, V.,Pristoupilova, A.,Hodanova, K.,Sovova, J.,Hulkova, H.,Piherova, L.,Hehir-Kwa, J. Y.,de Silva, D.,Senanayake, M. P.,Farrag, S.,Zeman, J.,Martasek, P.,Baxova, A.,Afifi, H. H.,St Croix, B.,Brunner, H. G.,Temtamy, S., & Kmoch, S. (2013). Mutations in ANTXR1 cause GAPO syndrome. Am J Hum Genet ,92 (5), 792-799. https://doi.org/S0002-9297(13)00160-2
Van Der Spoel, D.,Lindahl, E.,Hess, B.,Groenhof, G.,Mark, A. E., & Berendsen, H. J. (2005). GROMACS: fast, flexible, and free. J Comput Chem , 26 (16), 1701-1718. https://doi.org/10.1002/jcc.20291
Vanommeslaeghe, K.,Hatcher, E.,Acharya, C.,Kundu, S.,Zhong, S.,Shim, J.,Darian, E.,Guvench, O.,Lopes, P.,Vorobyov, I., & Mackerell, A. D., Jr. (2010). CHARMM general force field: A force field for drug-like molecules compatible with the CHARMM all-atom additive biological force fields. J Comput Chem , 31 (4), 671-690.https://doi.org/10.1002/jcc.21367
Wajntal, A.,Koiffmann, C. P.,Mendonca, B. B.,Epps-Quaglia, D.,Sotto, M. N.,Rati, P. B., & Opitz, J. M. (1990). GAPO syndrome (McKusick 23074)–a connective tissue disorder: report on two affected sibs and on the pathologic findings in the older. Am J Med Genet ,37 (2), 213-223. https://doi.org/10.1002/ajmg.1320370210
Williams, C. J.,Headd, J. J.,Moriarty, N. W.,Prisant, M. G.,Videau, L. L.,Deis, L. N.,Verma, V.,Keedy, D. A.,Hintze, B. J.,Chen, V. B.,Jain, S.,Lewis, S. M.,Arendall, W. B., 3rd,Snoeyink, J.,Adams, P. D.,Lovell, S. C.,Richardson, J. S., & Richardson, D. C. (2018). MolProbity: More and better reference data for improved all-atom structure validation.Protein Sci , 27 (1), 293-315. https://doi.org/10.1002/pro.3330
Funding:  This study was supported by funding from the Indian Council of Medical Research, New Delhi, India (Grant no. ISRM/12(58)/2019).