{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T11:22:25Z","timestamp":1785410545554,"version":"3.56.0"},"reference-count":19,"publisher":"Wiley","issue":"8","license":[{"start":{"date-parts":[[2020,5,22]],"date-time":"2020-05-22T00:00:00Z","timestamp":1590105600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"DOI":"10.13039\/100009619","name":"Japan Agency for Medical Research and Development","doi-asserted-by":"publisher","award":["19ek0109282h0001"],"award-info":[{"award-number":["19ek0109282h0001"]}],"id":[{"id":"10.13039\/100009619","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2020,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Biallelic <jats:italic>CLN3<\/jats:italic> gene variants have been found in either juvenile\u2010onset neuronal ceroid lipofuscinosis (JNCL) or isolated retinal dystrophy. It has been reported that most JNCL patients carry a common 1.02\u2010kb deletion variant homozygously. Clinical characteristics of patients with biallelic <jats:italic>CLN3<\/jats:italic> missense variants are not well elucidated.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We described a 26\u2010year\u2010old Japanese male patient with isolated retinal dystrophy. Whole\u2010exome sequencing (WES) and transmission electron microscopy (TEM) were performed.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Whole\u2010exome sequencing identified a novel homozygous <jats:italic>CLN3<\/jats:italic> missense variant [c.482C&gt;T; p.(Ser161Leu)]. Ophthalmoscopy revealed retinal degeneration and macular atrophy, and later attenuated retinal vessels. Severely reduced responses were observed in both rod and cone electroretinograms. In TEM of the patient's lymphocytes, fingerprint profiles, which are specific findings in <jats:italic>CLN3<\/jats:italic>\u2010associated JNCL, were observed in 16\/624 (2.56%) lymphocytes of the patient, who has never exhibited neurological signs during the 13\u2010year follow\u2010up period.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Our results indicated that this novel <jats:italic>CLN3<\/jats:italic> missense variant is associated with teenage\u2010onset isolated retinal dystrophy. This is the first report of any patient with <jats:italic>CLN3<\/jats:italic>\u2010associated disorder in the Japanese population. Although fingerprint profiles have never been reported in <jats:italic>CLN3<\/jats:italic>\u2010associated isolated retinal dystrophy, these profiles were observed, albeit infrequently, suggesting that frequency of the fingerprint profiles might depend on variant types.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.1308","type":"journal-article","created":{"date-parts":[[2020,5,22]],"date-time":"2020-05-22T11:40:45Z","timestamp":1590147645000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Novel homozygous <i>CLN3<\/i> missense variant in isolated retinal dystrophy: A case report and electron microscopic findings"],"prefix":"10.1002","volume":"8","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5389-6507","authenticated-orcid":false,"given":"Kei","family":"Mizobuchi","sequence":"first","affiliation":[{"name":"Department of Ophthalmology The Jikei University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1535-0279","authenticated-orcid":false,"given":"Takaaki","family":"Hayashi","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology The Jikei University School of Medicine Tokyo Japan"},{"name":"Department of Ophthalmology Katsushika Medical Center The Jikei University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazutoshi","family":"Yoshitake","sequence":"additional","affiliation":[{"name":"Division of Molecular and Cellular Biology, National Institute of Sensory Organs National Hospital Organization Tokyo Medical Center Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaoru","family":"Fujinami","sequence":"additional","affiliation":[{"name":"Division of Vision Research, National Institute of Sensory Organs National Hospital Organization Tokyo Medical Center Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Toshiaki","family":"Tachibana","sequence":"additional","affiliation":[{"name":"Core Research Facilities for Basic Science, Research Center for Medical Science The Jikei University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kazushige","family":"Tsunoda","sequence":"additional","affiliation":[{"name":"Division of Vision Research, National Institute of Sensory Organs National Hospital Organization Tokyo Medical Center Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takeshi","family":"Iwata","sequence":"additional","affiliation":[{"name":"Division of Molecular and Cellular Biology, National Institute of Sensory Organs National Hospital Organization Tokyo Medical Center Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tadashi","family":"Nakano","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology The Jikei University School of Medicine Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,5,22]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10633\u2010018\u20109665\u20107"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jmoldx.2018.04.004"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.61575"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.3109\/13816810.2014.991931"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598\u2010018\u201035152\u20106"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21624"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.1001\/jamaophthalmol.2017.1401"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms21041331"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10633\u2010019\u201009679\u20106"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092\u20108674(95)90274\u20100"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10633\u2010014\u20109473\u20107"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.859"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/514846"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.1754"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/s0387\u20107604(88)80075\u20105"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2009.01179.x"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439\u2010013\u20101381\u20105"},{"key":"e_1_2_9_20_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410430118"}],"container-title":["Molecular Genetics &amp; 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