{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,19]],"date-time":"2026-05-19T23:33:30Z","timestamp":1779233610968,"version":"3.51.4"},"reference-count":14,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,2,5]],"date-time":"2013-02-05T00:00:00Z","timestamp":1360022400000},"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":[[2013,12]]},"abstract":"von Hippel\u2013Lindau (VHL<\/jats:styled-content>) disease is an inheritable multisystem tumor syndrome characterized by multiple benign and malignant tumors affecting multiple organs. VHL<\/jats:styled-content> is the result of a germline mutation in the VHL<\/jats:styled-content><\/jats:italic> tumor suppressor gene. Molecular genomic analysis routinely confirms the clinical diagnosis. However, the use of molecular diagnostic methods can often be insufficient for the detection of mosaic germline VHL<\/jats:styled-content><\/jats:italic> mutations, making the diagnosis of some cases of VHL<\/jats:styled-content> difficult. Here, we report the case of a VHL<\/jats:styled-content><\/jats:italic> mosaic patient with bilateral renal lesions in the absence of other VHL<\/jats:styled-content>\u2010associated lesions. A VHL<\/jats:styled-content><\/jats:italic> mutation was not originally detected by routine molecular testing. Nonetheless, the detection of a heterozygous c.194C<\/jats:styled-content>>G (p.Ser65Trp<\/jats:styled-content>) VHL<\/jats:styled-content><\/jats:italic> mutation in the patient's daughter prompted further genetic assessment and eventually resulted in the finding of a mosaic c.194C<\/jats:styled-content>>G (p.Ser65Trp<\/jats:styled-content>) VHL<\/jats:styled-content><\/jats:italic> mutation in the patient. The mutation rate was 18.8\u2009\u00b1\u20093.84% in peripheral leukocytes. As the frequency of VHL<\/jats:styled-content><\/jats:italic> mosaicism remains underdetermined, the possibility of a diagnosis of mosaic VHL<\/jats:styled-content> should be considered in patients with both typical and atypical VHL<\/jats:styled-content>\u2010associated manifestations.<\/jats:p>","DOI":"10.1111\/cge.12092","type":"journal-article","created":{"date-parts":[[2013,2,6]],"date-time":"2013-02-06T03:32:51Z","timestamp":1360121571000},"page":"581-584","source":"Crossref","is-referenced-by-count":20,"title":["Mosaicism in von Hippel\u2013Lindau disease with severe renal manifestations"],"prefix":"10.1111","volume":"84","author":[{"given":"P","family":"Wu","sequence":"first","affiliation":[{"name":"Department of Urology, Peking University First Hospital, Institute of Urology Peking University, National Urological Cancer Center Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Urology, Beijing Chaoyang Hospital Capital Medical University Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Urology, Peking University First Hospital, Institute of Urology Peking University, National Urological Cancer Center Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Urology, Peking University First Hospital, Institute of Urology Peking University, National Urological Cancer Center Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"X","family":"Ning","sequence":"additional","affiliation":[{"name":"Department of Urology, Peking University First Hospital, Institute of Urology Peking University, National Urological Cancer Center Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D","family":"Bu","sequence":"additional","affiliation":[{"name":"Department of Central Laboratory Peking University First Hospital Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"K","family":"Gong","sequence":"additional","affiliation":[{"name":"Department of Urology, Peking University First Hospital, Institute of Urology Peking University, National Urological Cancer Center Beijing China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2013,2,5]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.8493574"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(03)13643-4"},{"key":"e_1_2_6_4_1","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2010.175"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21219"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.39.7.e38"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrg906"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2012.10"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0031-3955(16)38298-0"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(200001)15:1<114::AID-HUMU20>3.0.CO;2-7"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/302726"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1582-4934.2007.00122.x"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1086\/301766"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1086\/302004"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/nature09639"}],"container-title":["Clinical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1111%2Fcge.12092","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1111\/cge.12092","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,3]],"date-time":"2023-10-03T04:35:35Z","timestamp":1696307735000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1111\/cge.12092"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,2,5]]},"references-count":14,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2013,12]]}},"alternative-id":["10.1111\/cge.12092"],"URL":"https:\/\/doi.org\/10.1111\/cge.12092","archive":["Portico"],"relation":{},"ISSN":["0009-9163","1399-0004"],"issn-type":[{"value":"0009-9163","type":"print"},{"value":"1399-0004","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013,2,5]]}}}