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We performed WES on selected 17 trios (in some cases including other informative family members) in which the proband presented with severe, atypical clinical features, resistance to conventional therapy, a family pattern of occurrence and\/or syndromic characteristics. After performing WES and analysis of gene variants, 17 novel and\/or low\u2010frequency variants were identified in 7 patients. One variant was classified as pathogenic (<jats:italic>KMT2D<\/jats:italic>, NM_003482.3:c.8626delC, predicted to truncate the protein p.(Gln2876Serfs*34)) and two as likely pathogenic according to the American College of Medical Genetics and Genomics classification guidelines (<jats:italic>ADAR<\/jats:italic>, NM_001111.3:c.2815A&gt;G, predicted to encode p.(Ile939Val); <jats:italic>BLK<\/jats:italic>, NM_001715.2:c.211G&gt;A, predicted to encode p.(Ala71Thr)). The other variants remain of uncertain significance at this point of time. WES is an important diagnostic and research instrument, producing a growing list of likely genes and gene variants that may be of relevance in the pathogenesis of cSLE and potentially point to novel therapeutic targets.<\/jats:p>","DOI":"10.1111\/sji.13411","type":"journal-article","created":{"date-parts":[[2024,10,9]],"date-time":"2024-10-09T06:26:56Z","timestamp":1728455216000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Whole exome sequencing in patients with childhood\u2010onset systemic lupus erythematosus: Results from a Croatian national study"],"prefix":"10.1111","volume":"100","author":[{"given":"Mario","family":"Sestan","sequence":"first","affiliation":[{"name":"Department of Paediatrics University of Zagreb School of Medicine, University Hospital Centre Zagreb  Zagreb 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