{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,29]],"date-time":"2026-08-29T08:41:20Z","timestamp":1787992880218,"version":"build-2784847793"},"reference-count":0,"publisher":"Press of International Journal of Ophthalmology (IJO Press)","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Int J Ophthalmol"],"published-print":{"date-parts":[[2026,1,18]]},"abstract":"<jats:p>AIM: To conduct a genetic analysis of Han-Chinese patients with isolated congenital ptosis (ICP) and identify the genetic variants related to the condition.\nMETHODS: Sixty-five unrelated patients with ICP were enrolled. Comprehensive clinical examinations, whole exome sequencing (WES), and Sanger sequencing were used to reveal the potential genetic causes. Combined with public and in-house control databases, multiple bioinformatics prediction tools, and conservation analysis, the potential variants were further analyzed. AlphaFold 3, an accurate modelling prediction tool, was utilized to generate three-dimensional structural models of both wild-type and mutated proteins.\nRESULTS: Three novel heterozygous variants in the zinc finger homeobox 4 gene (ZFHX4), c.5145C&amp;#x0026;#x003E;A (p.N1715K), c.10382C&amp;#x0026;#x003E;T (p.A3461V), and c.10795G&amp;#x0026;#x003E;A (p.A3599T), were identified in three patients, respectively. Bioinformatics analyses suggested that these variants are likely to exert deleterious effects, supporting their potential involvement in the pathogenesis of ptosis.\nCONCLUSION: The novel heterozygous ZFHX4 variants are identified as disease-associated variants in three patients with ptosis, suggesting that ZFHX4 may be a disease-causing gene for autosomal dominant ICP with incomplete penetrance or a susceptibility gene. These findings expand the variant spectrum of ZFHX4, improve understanding of the pathogenesis of ZFHX4-related ptosis, and may contribute to the genetic counseling and disease management, as well as the development of experimental treatments.<\/jats:p>","DOI":"10.18240\/ijo.2026.01.04","type":"journal-article","created":{"date-parts":[[2025,12,17]],"date-time":"2025-12-17T01:52:15Z","timestamp":1765936335000},"page":"34-41","source":"Crossref","is-referenced-by-count":1,"title":["Genetic analysis of Han-Chinese patients with isolated congenital ptosis"],"prefix":"10.18240","volume":"19","author":[{"name":"Department of Laboratory Medicine, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China; Research Center of Medical Experimental Technology, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qian-Ling","family":"Zhang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xin-Yue","family":"Deng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Research Center of Medical Experimental Technology, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China; Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China; Xiangya School of Medicine, Central South University, Changsha 410013, Hunan Province, China","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Zheng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun-Hui","family":"Yi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Department of Ophthalmology, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hong-Bo","family":"Xu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Center for Experimental Medicine, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China; Disease Genome Research Center, Central South University, Changsha 410013, Hunan Province, China","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Deng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"Department of Laboratory Medicine, the Third Xiangya Hospital, Central South University, Changsha 410013, Hunan Province, China","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"7543","container-title":["International Journal of Ophthalmology"],"original-title":[],"link":[{"URL":"https:\/\/www.ijo.cn\/gjyken\/article\/pdf\/20260104","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T08:08:22Z","timestamp":1770883702000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ijo.cn\/gjyken\/article\/abstract\/20260104"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,1,18]]},"references-count":0,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1,18]]}},"URL":"https:\/\/doi.org\/10.18240\/ijo.2026.01.04","relation":{},"ISSN":["2222-3959","2227-4898"],"issn-type":[{"value":"2222-3959","type":"print"},{"value":"2227-4898","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1,18]]}}}