{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,3]],"date-time":"2026-06-03T07:38:03Z","timestamp":1780472283804,"version":"3.54.1"},"reference-count":31,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2023,4,25]],"date-time":"2023-04-25T00:00:00Z","timestamp":1682380800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp; Gen Med"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Some juvenile idiopathic arthritis (JIA) patients have a familial aggregation of the disease, and a few have been found to have a juvenile arthritis (JA) phenotype caused by a genetic mutation. JA due to <jats:italic>LACC1<\/jats:italic> defects is a rare condition and it was never reported in China.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>The clinical and molecular characteristics of a child with <jats:italic>LACC1<\/jats:italic> gene mutation\u2010related juvenile arthritis, diagnosed by high\u2010throughput sequencing in Wuhan children's Hospital in 2021 were analyzed retrospectively; The literature and database were reviewed to summarize the clinical data and genotype characteristics of patients with JA caused by <jats:italic>LACC1<\/jats:italic> gene mutation.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Here, we report a 19\u2010month\u2010old Chinese male patient who presented with bilateral limb edema without a history of fever. Laboratory tests showed had moderate anemia and signs of inflammation: hemoglobin of 76\u2009g\/L, white blood cell count of 20.53\u2009\u00d7\u200910<jats:sup>9<\/jats:sup>, and platelet count of 1194\u2009\u00d7\u200910<jats:sup>9<\/jats:sup>; MRI showed the patient had synovitis and tenosynovitis in bilateral hands and wrists. Whole\u2010exome sequencing (WES) detected compound heterozygous variants, novel c.446_449dupTAAA and c.889T&gt;C, in the <jats:italic>LACC1<\/jats:italic> gene. Of the 52 patients reported in the literature (including this case), 38.9% had clinical symptoms of systemic juvenile idiopathic arthritis (sJIA), which tended to be caused by loss\u2010of\u2010function (LOF) mutation. Findings in this study expanded the spectrum of pathogenic variants and reveal the phenotypic heterogeneity of <jats:italic>LACC1<\/jats:italic>\u2010JA.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our study reported a rare case of juvenile arthritis, which is due to the compound heterozygous mutation of <jats:italic>LACC1<\/jats:italic>, including a new novel frameshift mutation c.446_449dupTAAA, and <jats:italic>LACC1<\/jats:italic> C297R variant causes disease by potentially modifying the local conformation of proteins. The clinical and genetic findings in our study show that <jats:italic>LACC1<\/jats:italic>\u2010JA is highly heterogeneous, and gene testing is required for juvenile arthritis patients with a high inflammatory response at a young onset age.<\/jats:p><\/jats:sec>","DOI":"10.1002\/mgg3.2175","type":"journal-article","created":{"date-parts":[[2023,4,26]],"date-time":"2023-04-26T06:49:11Z","timestamp":1682491751000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Clinical characteristics and genotype analysis of a Chinese patient with juvenile arthritis due to novel <i>LACC1<\/i> frameshift mutation and literature review"],"prefix":"10.1002","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-1938-5687","authenticated-orcid":false,"given":"Yali","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Rheumatology and Immunology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College Huazhong University of Science &amp; Technology  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shasha","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College Huazhong University of Science &amp; Technology  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wen","family":"Yin","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College Huazhong University of Science &amp; Technology  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Yin","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College Huazhong University of Science &amp; Technology  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yan","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of Rheumatology and Immunology, Wuhan Children's Hospital (Wuhan Maternal and Child Healthcare Hospital), Tongji Medical College Huazhong University of Science &amp; Technology  Wuhan China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,4,25]]},"reference":[{"key":"e_1_2_12_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/bor.0000000000000362"},{"key":"e_1_2_12_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijpam.2020.11.005"},{"key":"e_1_2_12_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.764"},{"key":"e_1_2_12_5_1","doi-asserted-by":"publisher","DOI":"10.1038\/gene.2016.17"},{"key":"e_1_2_12_6_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.175"},{"key":"e_1_2_12_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/rheumatology\/keab017"},{"key":"e_1_2_12_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ni.3532"},{"key":"e_1_2_12_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2019.12.017"},{"key":"e_1_2_12_10_1","volume-title":"Textbook of pediatric rheumatology E\u2010book","author":"Cassidy J. 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