{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,20]],"date-time":"2026-04-20T01:36:29Z","timestamp":1776648989119,"version":"3.51.2"},"reference-count":40,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T00:00:00Z","timestamp":1754265600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2025,8,4]],"date-time":"2025-08-04T00:00:00Z","timestamp":1754265600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2026,2]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Cystic kidney diseases are genetically and clinically heterogeneous. Despite advances in genetic testing, some patients remain undiagnosed, limiting targeted care. This study explores the genetic causes in Lithuanian patients with multiple kidney cysts. Genetic testing using kidney\u2010focused next\u2010generation sequencing or Sanger sequencing was performed on 114 patients. Genetic and clinical data from individuals with detected variants were analyzed. Diagnostic variants were identified in 69% of families; variants of uncertain significance in 13%, and the remaining families were undiagnosed. The diagnostic yield was 73% in Group 1 (defined cystic kidney phenotype) and 61% in Group 2 (nonspecific kidney cysts). In total, 24 novel variants were identified in seven genes. Autosomal dominant polycystic kidney disease (ADPKD) was the most common diagnosis. Among patients with nonspecific cysts, variants were found in\n                    <jats:italic>PKD1<\/jats:italic>\n                    ,\n                    <jats:italic>COL4A5<\/jats:italic>\n                    ,\n                    <jats:italic>HNF1B<\/jats:italic>\n                    ,\n                    <jats:italic>NPHP1<\/jats:italic>\n                    ,\n                    <jats:italic>PAX2<\/jats:italic>\n                    ,\n                    <jats:italic>TSC2<\/jats:italic>\n                    , and\n                    <jats:italic>UMOD<\/jats:italic>\n                    , while 39% remained genetically unresolved. Patients with non\u2010ADPKD diagnoses typically showed multiple cysts without a definitive phenotype. Most patients harbored disease\u2010causing variants, with novel variants that will contribute to the ADPKD Variant Database. While ciliopathies are frequently recognized, genetic glomerulopathies may also present with a cystic phenotype. Genetic testing should be considered in cases of nonspecific multiple kidney cysts.\n                  <\/jats:p>","DOI":"10.1111\/cge.70036","type":"journal-article","created":{"date-parts":[[2025,8,5]],"date-time":"2025-08-05T05:10:41Z","timestamp":1754370641000},"page":"277-285","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Genetic Characterization of Lithuanian Patients With Cystic Kidney"],"prefix":"10.1111","volume":"109","author":[{"given":"Deimante","family":"Brazdziunaite","sequence":"first","affiliation":[{"name":"Faculty of Medicine, Institute of Biomedical Sciences, Department of Human and Medical Genetics Vilnius University  Vilnius Lithuania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabija","family":"Mazur","sequence":"additional","affiliation":[{"name":"Centre for Medical Genetics Vilnius University Hospital Santaros Klinikos  Vilnius 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