{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T19:58:08Z","timestamp":1787169488774,"version":"build-2736575974"},"reference-count":48,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"10","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2021,10]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose:<\/jats:title>\n                    <jats:p>\n                      To report the association of procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 (\n                      <jats:italic toggle=\"yes\">PLOD2<\/jats:italic>\n                      ) mutations with bilateral primary congenital glaucoma (PCG) in monozygotic twins and with nondominant juvenile-onset primary open-angle glaucoma (JOAG).\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods:<\/jats:title>\n                    <jats:p>\n                      We utilized family-based whole-exome sequencing to detect disease-causing mutations in a pair of monozygotic twins with de-novo PCG and compared its existence in 50 nonfamilial cases of JOAG and 30 healthy controls. To validate the identified mutations, direct Sanger sequencing was performed. For further evaluation of gene expression in the ocular tissues, we performed whole-mount\n                      <jats:italic toggle=\"yes\">in situ<\/jats:italic>\n                      hybridization in zebrafish embryos.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results:<\/jats:title>\n                    <jats:p>\n                      We identified a novel missense mutation (c.1925A&gt;G, p.Tyr642Cys) in the\n                      <jats:italic toggle=\"yes\">PLOD2<\/jats:italic>\n                      gene in the monozygotic twin pair with PCG and another missense mutation (c.1880G&gt;A, p.Arg627Gln) in one JOAG patient. Both mutations identified were heterozygous. Neither the parents of the twins nor the parents of the JOAG patient harbored the mutation and it was probably a de-novo change. The zebrafish\n                      <jats:italic toggle=\"yes\">in situ<\/jats:italic>\n                      hybridization revealed expression of the\n                      <jats:italic toggle=\"yes\">PLOD2<\/jats:italic>\n                      gene during embryogenesis of the eye.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion:<\/jats:title>\n                    <jats:p>\n                      We observed an association of\n                      <jats:italic toggle=\"yes\">PLOD2<\/jats:italic>\n                      mutations with PCG and with nonfamilial JOAG. This new gene needs to be further investigated for its role in pathways associated with glaucoma pathogenesis.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.4103\/ijo.ijo_1750_21","type":"journal-article","created":{"date-parts":[[2021,10,5]],"date-time":"2021-10-05T11:42:39Z","timestamp":1633434159000},"page":"2710-2716","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":9,"title":["Exome sequencing identifies procollagen-lysine 2-oxoglutarate 5-dioxygenase 2 mutations in primary congenital and juvenile glaucoma"],"prefix":"10.4103","volume":"69","author":[{"given":"Viney","family":"Gupta","sequence":"first","affiliation":[{"name":"Dr Rajendra Prasad Centre for Ophthalmic Sciences, New Delhi, India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bindu I","family":"Somarajan","sequence":"additional","affiliation":[{"name":"Dr Rajendra Prasad Centre for Ophthalmic Sciences, New 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