{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T00:44:21Z","timestamp":1790729061089,"version":"4.1.0"},"reference-count":40,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2023,2,9]],"date-time":"2023-02-09T00:00:00Z","timestamp":1675900800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Autosomal-dominant polycystic kidney disease (ADPKD) is characterized by bilateral kidney cysts that ultimately lead to end-stage kidney disease. While the major causative genes of ADPKD are PKD1 and PKD2, other genes are also thought to be involved. Fifty ADPKD patients were analyzed by exome sequencing or multiplex ligation-dependent probe amplification (MLPA), followed by long polymerase chain reaction and Sanger sequencing. Variants in PKD1 or PKD2 or GANAB were detected in 35 patients (70%). Exome sequencing identified 24, 7, and 1 variants in PKD1, PKD2, and GANAB, respectively, in 30 patients. MLPA analyses identified large deletions in PKD1 in three patients and PKD2 in two patients. We searched 90 cyst-associated genes in 15 patients who were negative by exome sequencing and MLPA analyses, and identified 17 rare variants. Four of them were considered \u201clikely pathogenic\u201d or \u201cpathogenic\u201d variants according to the American College of Medical Genetics and Genomics guidelines. Of the 11 patients without a family history, four, two, and four variants were found in PKD1, PKD2, and other genes, respectively, while no causative gene was identified in one patient. While the pathogenicity of each variant in these genes should be carefully assessed, a comprehensive genetic analysis may be useful in cases of atypical ADPKD.<\/jats:p>","DOI":"10.3390\/genes14020443","type":"journal-article","created":{"date-parts":[[2023,2,10]],"date-time":"2023-02-10T03:52:49Z","timestamp":1676001169000},"page":"443","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["Mutation Analysis of Autosomal-Dominant Polycystic Kidney Disease Patients"],"prefix":"10.3390","volume":"14","author":[{"given":"Yasuo","family":"Suzuki","sequence":"first","affiliation":[{"name":"Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu 514-8507, Japan"},{"name":"Department of Kidney center, Suzuka Kaisei Hospital, Suzuka 513-8505, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6663-133X","authenticated-orcid":false,"given":"Kan","family":"Katayama","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu 514-8507, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryosuke","family":"Saiki","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu 514-8507, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yosuke","family":"Hirabayashi","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu 514-8507, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomohiro","family":"Murata","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu 514-8507, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eiji","family":"Ishikawa","sequence":"additional","affiliation":[{"name":"Department of Nephrology, Saiseikai Matsusaka General Hospital, Matsusaka 515-0003, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masaaki","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu 514-8507, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kaoru","family":"Dohi","sequence":"additional","affiliation":[{"name":"Department of Cardiology and Nephrology, Mie University Graduate School of Medicine, Tsu 514-8507, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2023,2,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1093\/qjmed\/hct082","article-title":"The natural history of autosomal dominant polycystic kidney disease: 30-year experience from a single centre","volume":"106","author":"Thong","year":"2013","journal-title":"QJM Int. 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