{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,10]],"date-time":"2026-07-10T14:44:38Z","timestamp":1783694678055,"version":"3.55.0"},"reference-count":41,"publisher":"Portland Press Ltd.","issue":"1","license":[{"start":{"date-parts":[[2019,7,18]],"date-time":"2019-07-18T00:00:00Z","timestamp":1563408000000},"content-version":"vor","delay-in-days":198,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["portlandpress.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2019,1,31]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>Stargardt disease (STGD1, OMIM 248200) is a common hereditary juvenile or early adult onset macular degeneration. It ultimately leads to progressive central vision loss. Here, we sought to identify gene mutations associated with STGD1 in a three-generation Han Chinese pedigree by whole exome sequencing and Sanger sequencing. Two novel potentially pathogenic variants in a compound heterozygous state, c.3607G&gt;T (p.(Gly1203Trp)) and c.6722T&gt;C (p.(Leu2241Pro)), in the ATP binding cassette subfamily A member 4 gene (ABCA4) were identified as contributing to the family\u2019s STGD1 phenotype. These variants may impact the ABCA4 protein structure and reduce the retinal-activated ATPase activity, leading to abnormal all-trans retinal accumulation in photoreceptor outer segments and in retinal pigment epithelium cells. The present study broadens the mutational spectrum of the ABCA4 responsible for STGD1. A combination of whole exome sequencing and Sanger sequencing is likely to be a time-saving and cost-efficient approach to screen pathogenic variants in genetic disorders caused by sizable genes, as well as avoiding misdiagnosis. These results perhaps refine genetic counseling and ABCA4-targetted treatments for families affected by STGD1.<\/jats:p>","DOI":"10.1042\/bsr20180872","type":"journal-article","created":{"date-parts":[[2018,12,18]],"date-time":"2018-12-18T17:45:18Z","timestamp":1545155118000},"update-policy":"https:\/\/doi.org\/10.1042\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Identification of novel pathogenic ABCA4 variants in a Han Chinese family with Stargardt disease"],"prefix":"10.1042","volume":"39","author":[{"given":"Qin","family":"Xiang","sequence":"first","affiliation":[{"name":"Postdoctoral Research Station of Basic Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"},{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yanna","family":"Cao","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongbo","family":"Xu","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yi","family":"Guo","sequence":"additional","affiliation":[{"name":"Department of Medical Information, Information Security and Big Data Research Institute, Central South University, Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zhijian","family":"Yang","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lu","family":"Xu","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lamei","family":"Yuan","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hao","family":"Deng","sequence":"additional","affiliation":[{"name":"Center for Experimental Medicine, The Third Xiangya Hospital, Central South University, Changsha, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"288","published-online":{"date-parts":[[2019,1,15]]},"reference":[{"key":"2019102421503252500_B1","doi-asserted-by":"publisher","first-page":"1057","DOI":"10.1007\/s00417-017-3619-8","article-title":"Novel therapeutics for Stargardt disease","volume":"255","author":"Lu","year":"2017","journal-title":"Graefes Arch. 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