{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,26]],"date-time":"2026-10-26T17:28:30Z","timestamp":1793035710913,"version":"4.5.0"},"reference-count":17,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2014,4,26]],"date-time":"2014-04-26T00:00:00Z","timestamp":1398470400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2015,4]]},"abstract":"Autosomal dominant polycystic kidney disease (ADPKD<\/jats:styled-content>) is a heterogeneous genetic disorder caused by loss of function mutations of PKD1<\/jats:styled-content><\/jats:italic> or PKD2<\/jats:styled-content><\/jats:italic> genes. Although PKD1<\/jats:styled-content><\/jats:italic> is highly polymorphic and the new mutation rate is relatively high, the role of mosaicism is incompletely defined. Herein, we describe the molecular analysis of ADPKD<\/jats:styled-content> in a 19\u2010year\u2010old female proband and her father. The proband had a PKD1<\/jats:styled-content><\/jats:italic> truncation mutation c.10745dupC<\/jats:styled-content> (p.Val3584ArgfsX43<\/jats:styled-content>), which was absent in paternal peripheral blood lymphocytes (PBL<\/jats:styled-content>). However, very low quantities of this mutation were detected in the father's sperm DNA<\/jats:styled-content>, but not in DNA<\/jats:styled-content> from his buccal cells or urine sediment. Next generation sequencing (NGS<\/jats:styled-content>) analysis determined the level of this mutation in the father's PBL<\/jats:styled-content>, buccal cells and sperm to be \u223c3%, 4.5% and 10%, respectively, consistent with somatic and germline mosaicism. The PKD1<\/jats:styled-content><\/jats:italic> mutation in \u223c10% of her father's sperm indicates that it probably occurred early in embryogenesis. In ADPKD<\/jats:styled-content> cases where a de novo<\/jats:italic> mutation is suspected because of negative PKD<\/jats:styled-content><\/jats:italic> gene testing of PBL<\/jats:styled-content>, additional evaluation with more sensitive methods (e.g. NGS<\/jats:styled-content>) of the proband PBL<\/jats:styled-content> and paternal sperm can enhance detection of mosaicism and facilitate genetic counseling.<\/jats:p>","DOI":"10.1111\/cge.12383","type":"journal-article","created":{"date-parts":[[2014,3,18]],"date-time":"2014-03-18T14:12:40Z","timestamp":1395151960000},"page":"373-377","source":"Crossref","is-referenced-by-count":33,"title":["Autosomal dominant polycystic kidney disease caused by somatic and germline mosaicism"],"prefix":"10.1111","volume":"87","author":[{"given":"A.Y.","family":"Tan","sequence":"first","affiliation":[{"name":"Department of Pathology and Laboratory Medicine New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Blumenfeld","sequence":"additional","affiliation":[{"name":"Department of Medicine Weill Cornell Medical College New York NY USA"},{"name":"The Rogosin Institute New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Michaeel","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Donahue","sequence":"additional","affiliation":[{"name":"The Rogosin Institute New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"W.","family":"Bobb","sequence":"additional","affiliation":[{"name":"The Rogosin Institute New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Parker","sequence":"additional","affiliation":[{"name":"Department of Medicine Weill Cornell Medical College New York NY USA"},{"name":"The Rogosin Institute New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Levine","sequence":"additional","affiliation":[{"name":"Department of Medicine Weill Cornell Medical College New York NY USA"},{"name":"The Rogosin Institute New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Rennert","sequence":"additional","affiliation":[{"name":"Department of Pathology and Laboratory Medicine New York NY USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2014,4,26]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"crossref","first-page":"383","DOI":"10.1038\/ki.2013.227","article-title":"Evidence of a third ADPKD locus is not supported by re\u2010analysis of designated PKD3 families","volume":"85","author":"Paul BM","year":"2013","journal-title":"Kidney 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