{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T18:29:55Z","timestamp":1777660195956,"version":"3.51.4"},"reference-count":13,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T00:00:00Z","timestamp":1770076800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"The National Key Research and Development Program of China Grant","award":["2023YFC3604101"],"award-info":[{"award-number":["2023YFC3604101"]}]},{"name":"The Science and Technology Innovation Project of the General Administration of Sport of China","award":["23KJCX059"],"award-info":[{"award-number":["23KJCX059"]}]},{"name":"The Central Government to Guide Local Scientific and Technological Development","award":["2022YRZ0102"],"award-info":[{"award-number":["2022YRZ0102"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Genetic Testing and Molecular Biomarkers"],"published-print":{"date-parts":[[2026,3,1]]},"abstract":"\n Background:<\/jats:title>\n \n X-linked female-limited high myopia (MYP26, OMIM:301010) is a rare Mendelian subtype of early-onset high myopia (eoHM), with females having progressive myopic refractive error (\u2265\u22126 D) and males as asymptomatic carriers. Pathogenic variants in\n ARR3<\/jats:italic>\n (OMIM:301770) have been linked to eoHM, but the spectrum of\n ARR3<\/jats:italic>\n variants in Chinese populations remains incompletely defined.\n <\/jats:p>\n <\/jats:sec>\n \n Objective:<\/jats:title>\n \n To identify the causative variant in a Chinese eoHM family and expand\n ARR3<\/jats:italic>\n variant spectrum for MYP26.\n <\/jats:p>\n <\/jats:sec>\n \n Methods:<\/jats:title>\n We conducted clinical and genetic analyses of a Chinese family with eoHM. The proband underwent clinical examinations and whole-exome sequencing (WES). Sanger sequencing validated variants in affected family members, and bioinformatics tools evaluated variant pathogenicity.<\/jats:p>\n <\/jats:sec>\n \n Results:<\/jats:title>\n \n WES identified an\n ARR3<\/jats:italic>\n c.214C>T (p.R72X) stop-gain variant, co-segregating with the disease phenotype and predicted to truncate cone arrestin, disrupting phototransduction. A female carrier showing incomplete penetrance (I-1) was identified, which highlights the unrecognized complexity of the pathogenic mechanism underlying MYP26. This variant was first reported in the Chinese population.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions:<\/jats:title>\n \n Our study expands the\n ARR3<\/jats:italic>\n variant spectrum associated with eoHM, highlighting the role of\n ARR3<\/jats:italic>\n c.214C>T (p.R72X), first reported in Chinese populations. The finding of incomplete penetrance underscores the complexity of X-linked female-limited inheritance and provides a reference for genetic counseling of related families.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1177\/19450265261419296","type":"journal-article","created":{"date-parts":[[2026,2,3]],"date-time":"2026-02-03T10:51:36Z","timestamp":1770115896000},"page":"67-70","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":0,"title":["A Chinese Family with X-Linked Female-Limited High Myopia Caused by an\n ARR3<\/i>\n Variant"],"prefix":"10.1177","volume":"30","author":[{"given":"Jianping","family":"Zhang","sequence":"first","affiliation":[{"name":"Liuzhou Hospital of Guangzhou Women and Children\u2019s Medical Center, Guangxi, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0004-2714-2903","authenticated-orcid":false,"given":"Yijia","family":"Zhao","sequence":"additional","affiliation":[{"name":"National Research Institute for Family Planning Center for Genetics, Beijing, China."},{"name":"Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yueyuan","family":"Lan","sequence":"additional","affiliation":[{"name":"Liuzhou Maternity and Child Healthcare Hospital, Guangxi, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenhui","family":"Liu","sequence":"additional","affiliation":[{"name":"Liuzhou Hospital of Guangzhou Women and Children\u2019s Medical Center, Guangxi, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pei","family":"Zhong","sequence":"additional","affiliation":[{"name":"Liuzhou Maternity and Child Healthcare Hospital, Guangxi, China."}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1597-5930","authenticated-orcid":false,"given":"Binbin","family":"Wang","sequence":"additional","affiliation":[{"name":"National Research Institute for Family Planning Center for Genetics, Beijing, China."},{"name":"Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing, China."},{"name":"NHC Key Laboratory of Reproductive Health Engineering Technology Research (NRIFP), Beijing, China."}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2026,2,3]]},"reference":[{"key":"e_1_3_4_2_1","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.65.8.6"},{"key":"e_1_3_4_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.149"},{"key":"e_1_3_4_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-024-03390-9"},{"key":"e_1_3_4_5_1","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-genet-120116-024611"},{"key":"e_1_3_4_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-023-36141-0"},{"key":"e_1_3_4_7_1","doi-asserted-by":"publisher","DOI":"10.3389\/fcell.2025.1551135"},{"key":"e_1_3_4_8_1","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01673-z"},{"key":"e_1_3_4_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.24327"},{"key":"e_1_3_4_10_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo-2022-321511"},{"key":"e_1_3_4_11_1","first-page":"1257","article-title":"X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia","volume":"22","author":"Xiao X","year":"2016","unstructured":"Xiao X, , Li S, , Jia X, et al. X-linked heterozygous mutations in ARR3 cause female-limited early onset high myopia. Mol Vis, 2016; 22:1257\u20131266.","journal-title":"Mol Vis"},{"key":"e_1_3_4_12_1","doi-asserted-by":"publisher","DOI":"10.3390\/jcm12030835"},{"key":"e_1_3_4_13_1","doi-asserted-by":"publisher","DOI":"10.1136\/bmjophth-2024-001720"},{"key":"e_1_3_4_14_1","doi-asserted-by":"publisher","DOI":"10.3389\/fgene.2021.765503"}],"container-title":["Genetic Testing and Molecular Biomarkers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/19450265261419296","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/19450265261419296","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/19450265261419296","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T07:21:49Z","timestamp":1777447309000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/19450265261419296"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,2,3]]},"references-count":13,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2026,3,1]]}},"alternative-id":["10.1177\/19450265261419296"],"URL":"https:\/\/doi.org\/10.1177\/19450265261419296","relation":{},"ISSN":["1945-0265","1945-0257"],"issn-type":[{"value":"1945-0265","type":"print"},{"value":"1945-0257","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,2,3]]}}}