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But the genetic factors contributing to FEVR\u2019s development or pathogenesis remain elusive. In a Chinese family with FEVR with 19 members, by using whole-exome sequencing, we identified a candidate disease-causing DNA variant in sorting nexin 31 (\n                    <jats:italic>SNX31<\/jats:italic>\n                    ) (c.963delG; p. Trp321Cys), which results in a frameshift mutation. We studied the biochemical mechanism of this mutation and determined that it is deficient in \u03b21-integrin binding and stability. The\n                    <jats:italic>SNX31<\/jats:italic>\n                    c.963delG point mutation mouse model (\n                    <jats:italic>\n                      SNX31\n                      <jats:sup>m\/m<\/jats:sup>\n                    <\/jats:italic>\n                    ) was constructed with CRISPR\/Cas9 technology. At 2\u20134 months of age,\n                    <jats:italic>\n                      SNX31\n                      <jats:sup>m\/m<\/jats:sup>\n                    <\/jats:italic>\n                    mice showed fundus phenotypes similar to FEVR-like changes, including vascular leakage and retinal atrophy. Moreover, we found that VEGF and apoptotic pathways were involved in these ocular phenotypes. Hence, our study extended the FEVR mutation spectrum to include\n                    <jats:italic>SNX31<\/jats:italic>\n                    . These findings expanded our understanding of the molecular pathogenesis of FEVR and may facilitate the development of methods for the diagnosis and prevention of FEVR.\n                  <\/jats:p>","DOI":"10.1172\/jci.insight.167032","type":"journal-article","created":{"date-parts":[[2023,4,13]],"date-time":"2023-04-13T12:00:23Z","timestamp":1681387223000},"source":"Crossref","is-referenced-by-count":18,"title":["An SNX31 variant underlies dominant familial exudative vitreoretinopathy-like pathogenesis"],"prefix":"10.1172","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9330-5422","authenticated-orcid":true,"given":"Ningda","family":"Xu","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Peking University People\u2019s Hospital, Eye Diseases and Optometry Institute, Beijing Key Laboratory of Diagnosis and Therapy of Retinal and Choroid Diseases, College of Optometry, Peking University Health Science Center, Beijing, 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