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The purpose of this study was to identify the causative genetic variants in two Chinese families with RAM with an autosomal recessive inheritance pattern.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>DNA samples were obtained from two probands and their family members. Targeted next-generation sequencing (NGS) was used to screen 425 genes associated with inherited eye diseases to identify possible disease-causing variants in the two patients. Sanger sequencing was subsequently used to validate the results in both families.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      The targeted NGS panel identified potentially causative novel variants of the latent transforming growth factor beta binding protein 2 (\n                      <jats:italic>LTBP2<\/jats:italic>\n                      ) gene in the two RAM families: a missense variant (c.2771C\u2009&gt;\u2009T; p.Ala924Val) and an intronic variant (c.4582\u2009+\u20099A\u2009&gt;\u2009G) in Family A and a different missense variant (c.5239C\u2009&gt;\u2009A; p.Arg1747Ser) and a synonymous variant (c.951G\u2009&gt;\u2009A; p.Pro317Pro) in Family B. These four novel variants all cosegregated with the disease phenotype.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      To our knowledge, this is the first study to report novel\n                      <jats:italic>LTBP2<\/jats:italic>\n                      gene variants related to RAM. Considering the importance of LTBP2 in ocular development, we provide initial insights into the potential pathogenic mechanisms of LTBP2 in RAM.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/11206721241240503","type":"journal-article","created":{"date-parts":[[2024,3,28]],"date-time":"2024-03-28T04:14:04Z","timestamp":1711599244000},"page":"1750-1760","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel compound heterozygous variants in\n                    <i>LTBP2<\/i>\n                    associated with relative anterior microphthalmos"],"prefix":"10.1177","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3557-4576","authenticated-orcid":false,"given":"Peimin","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Eye and ENT Hospital, Fudan University, 83 Fenyang Rd., Shanghai 200031, China"},{"name":"Eye Institute, 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