{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T20:41:27Z","timestamp":1777581687727,"version":"3.51.4"},"reference-count":23,"publisher":"SAGE Publications","issue":"6","license":[{"start":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T00:00:00Z","timestamp":1711065600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["European Journal of Ophthalmology"],"published-print":{"date-parts":[[2024,11]]},"abstract":"<jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>\n                      This study aimed to analyze the clinical and genetic characteristics of 6 Chinese patients with foveal hypoplasia (FH) caused by the variants of solute carrier family 38 member 8 (\n                      <jats:italic>SLC38A8<\/jats:italic>\n                      ), and to describe the genotype and phenotype of\n                      <jats:italic>SLC38A8<\/jats:italic>\n                      variants from previous literature.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      All subjects underwent comprehensive ophthalmic examinations. Optical coherence tomography (OCT) was performed to evaluate the structural grade of FH. Pathogenic variants of\n                      <jats:italic>SLC38A8<\/jats:italic>\n                      gene were identified using panel-based next-generation sequencing and direct Sanger sequencing techniques. Further, all previously reported cases of\n                      <jats:italic>SLC38A8<\/jats:italic>\n                      variants were re-analyzed together with the novel ones identified in this study.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Nystagmus and FH were present in 6 patients with variants of\n                      <jats:italic>SLC38A8<\/jats:italic>\n                      gene, accompanied by a normal anterior segment. Grade 4 FH was identified in 4 patients. A total of 12 variants of\n                      <jats:italic>SLC38A8<\/jats:italic>\n                      gene were identified, including 9 novel variants. Systematical analysis revealed that half of the variants (30\/60) were missense, the majority of which (23\/30) were distributed in the transmembrane (TM) domains. Grade 4 FH was detected in the majority of patients (66%, 23\/35). There was no statistical difference in the clinical features between the subgroups of patients with 0, 1 and 2 missense variants.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      Severe arrest of foveal development was identified in patients with variants of\n                      <jats:italic>SLC38A8<\/jats:italic>\n                      . This study provides a brief summary of the clinical and genetic characteristics of the pathogenic\n                      <jats:italic>SLC38A8<\/jats:italic>\n                      variants, which is helpful in the differentiation diagnosis of FH.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1177\/11206721241242155","type":"journal-article","created":{"date-parts":[[2024,3,22]],"date-time":"2024-03-22T03:38:57Z","timestamp":1711078737000},"page":"1740-1749","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":3,"title":["Novel pathogenic variants of SLC38A8 gene and literature review"],"prefix":"10.1177","volume":"34","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-0452-1460","authenticated-orcid":false,"given":"Xiaofang","family":"Ren","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56 Nanlishi Road, Xicheng District, Beijing, 100040, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2727-9454","authenticated-orcid":false,"given":"Lijuan","family":"Huang","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The Second Affiliated Hospital, Fujian Medical University, Quanzhou, 362000, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shan","family":"Cheng","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Developmental Biology, School of Basic Medical Sciences, Capital Medical University, Beijing, 100069, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jing","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics and Developmental Biology, School of Basic Medical Sciences, Capital Medical University, Beijing, 100069, China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3786-9490","authenticated-orcid":false,"given":"Ningdong","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, No.56 Nanlishi Road, Xicheng District, Beijing, 100040, China"},{"name":"Department of Ophthalmology, Shanghai General Hospital, Shanghai Jiao Tong University School of Medicine, National Clinical Research Center for Eye Diseases, Shanghai, China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2024,3,22]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2013.11.002"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ophtha.2011.01.028"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.12.015"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1002\/humu.22981"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/pcmr.12688"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.3390\/ijms22031130"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1901572116"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.62.10.23"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.63.1.19"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1080\/13816810.2021.1888128"},{"key":"e_1_3_3_13_2","first-page":"2165","article-title":"A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1","volume":"19","author":"Al-Araimi M","year":"2013","unstructured":"Al-Araimi M, Pal B, Poulter JA, et al. A new recessively inherited disorder composed of foveal hypoplasia, optic nerve decussation defects and anterior segment dysgenesis maps to chromosome 16q23.3-24.1. 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