{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,26]],"date-time":"2026-07-26T15:02:26Z","timestamp":1785078146465,"version":"3.55.0"},"reference-count":36,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T00:00:00Z","timestamp":1782345600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T00:00:00Z","timestamp":1782345600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"funder":[{"DOI":"10.13039\/501100005047","name":"Natural Science Foundation of Liaoning Province","doi-asserted-by":"publisher","award":["2023\u2010MSLH\u2010072"],"award-info":[{"award-number":["2023\u2010MSLH\u2010072"]}],"id":[{"id":"10.13039\/501100005047","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen & Gen Med"],"published-print":{"date-parts":[[2026,7]]},"abstract":"ABSTRACT<\/jats:title>\n \n Background<\/jats:title>\n \n This study characterizes the clinical and genetic features of\n ABCA4<\/jats:italic>\n \u2010associated inherited retinal diseases (IRDs) in eight unrelated probands from the three provinces of Northeast China. All patients harbored biallelic pathogenic\n ABCA4<\/jats:italic>\n variants, with detailed variant profiles provided in Table\u00a02.\n <\/jats:p>\n <\/jats:sec>\n \n Methods<\/jats:title>\n \n Eight unrelated Chinese pedigrees (31 individuals, including 8 probands and 23 family members) with\n ABCA4<\/jats:italic>\n \u2010related IRDs. All participants underwent comprehensive ophthalmic examinations. Genetic variants were identified using a targeted next\u2010generation sequencing (NGS) panel for IRDs. For all candidate pathogenic variants, in silico pathogenicity predictions were performed using REVEL, PolyPhen\u20102, MutationTaster, SIFT, and LRT (Likelihood Ratio Test). The pathogenicity of the variants was classified in accordance with the guidelines of the American College of Medical Genetics and Genomics (ACMG), integrating computational evidence and segregation analysis. All candidate variants were validated by bidirectional Sanger sequencing, and co\u2010segregation analysis was performed in available family members.\n <\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Sixteen\n ABCA4<\/jats:italic>\n variants were identified, including six novel potentially deleterious variants (three predicted loss\u2010of\u2010function). ACMG classifications comprised six pathogenic variants, eight likely pathogenic variants, and two variants of uncertain significance (VUS). Phenotypically, six probands presented with Stargardt disease type 1 (STGD1), one with early\u2010onset severe retinal dystrophy (EOSRD, compound heterozygous\n ABCA4<\/jats:italic>\n variants), and one with an unclassified IRD. The three provinces of Northeast China STGD1 patients displayed a higher proportion of mild\u2010severity variants yet presented with an earlier median onset age (10.6\u2009years) and more severe visual impairment (77.2% with best\u2010corrected visual acuity <\u20090.1) when compared to global cohorts. However, this observation may reflect referral bias to a tertiary center and requires validation in larger, multi\u2010ethnic cohorts.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusions<\/jats:title>\n \n Targeted NGS identified six potentially novel\n ABCA4<\/jats:italic>\n variants in the Northeast Chinese population, including three predicted loss\u2010of\u2010function variants. This study reports a case of\n ABCA4<\/jats:italic>\n associated EOSRD, thereby broadening the documented\n ABCA4<\/jats:italic>\n variant spectrum in this population.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.1002\/mgg3.70229","type":"journal-article","created":{"date-parts":[[2026,6,26]],"date-time":"2026-06-26T03:56:31Z","timestamp":1782446191000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["\n ABCA4<\/i>\n <\/scp>\n \u2010Associated Retinal Degeneration in 8 Families From the Three Provinces of Northeast China: Identification and Characterization of Potentially Novel Variants"],"prefix":"10.1002","volume":"14","author":[{"ORCID":"https:\/\/orcid.org\/0009-0003-8461-9643","authenticated-orcid":false,"given":"Nian","family":"Li","sequence":"first","affiliation":[{"name":"He Eye Specialist Hospital Shenyang China"},{"name":"Dalian Medical University Dalian China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linlin","family":"Su","sequence":"additional","affiliation":[{"name":"He Eye Specialist Hospital Shenyang China"},{"name":"Dalian Medical University Dalian China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yue","family":"Ren","sequence":"additional","affiliation":[{"name":"He Eye Specialist Hospital Shenyang China"},{"name":"He Eye Specialist Hospital Group Shenyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ye","family":"Liu","sequence":"additional","affiliation":[{"name":"He University Shenyang China"},{"name":"Shenyang He Vision Industrial Group Shenyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jiayuan","family":"Ge","sequence":"additional","affiliation":[{"name":"He Eye Specialist Hospital Group Shenyang China"},{"name":"He University Shenyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-1507-8179","authenticated-orcid":false,"given":"Henan","family":"Sun","sequence":"additional","affiliation":[{"name":"He University Shenyang China"},{"name":"Shenyang He Vision Industrial Group Shenyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhuoshi","family":"Wang","sequence":"additional","affiliation":[{"name":"He Eye Specialist Hospital Shenyang China"},{"name":"Dalian Medical University Dalian China"},{"name":"He Eye Specialist Hospital Group Shenyang China"},{"name":"He University Shenyang China"},{"name":"Shenyang He Vision Industrial Group Shenyang China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,6,25]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1123"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M000555200"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00417-019-04280-8"},{"key":"e_1_2_12_5_1","first-page":"2229","article-title":"Mutations in ABCR (ABCA4) in Patients With Stargardt Macular Degeneration or Cone\u2010Rod Degeneration","volume":"42","author":"Briggs C. 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