{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,25]],"date-time":"2025-04-25T04:11:38Z","timestamp":1745554298449,"version":"3.40.4"},"reference-count":3,"publisher":"S. Karger AG","issue":"4","license":[{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2002,1,1]],"date-time":"2002-01-01T00:00:00Z","timestamp":1009843200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Gerontology"],"published-print":{"date-parts":[[2002]]},"abstract":"<jats:p>&lt;i&gt;Background:&lt;\/i&gt; Werner\u2019s syndrome, a rare autosomal recessive disorder, is characterized by features of premature aging. Seventy-five percent of the alleles of Japanese patients with Werner\u2019s syndrome have one of three major mutations. &lt;i&gt;Objective:&lt;\/i&gt; To determine the genotype of a patient with Werner\u2019s syndrome. &lt;i&gt;Methods:&lt;\/i&gt; We diagnosed Werner\u2019s syndrome in a 47-year-old Japanese man who had juvenile cataracts, skin sclerosis and hyperpigmentation of the feet, a high-pitched voice, characteristic bird-like appearance of the face with a beak-shaped nose, thinning of the skin over the whole body and hyperkeratoses on the soles of the feet, hyperlipidemia, and diabetes mellitus. None of his immediate family had entered into a consanguineous marriage. He had undergone surgery to treat duodenal perforation. We screened his family for three major mutations (mutations 1, 4, 6) in the WRN gene by polymerase chain reaction-restriction fragment length polymorphism. Automated DNA sequencing fluorescence-labeled dideoxy terminators proceeded for abnormally migrating bands. &lt;i&gt;Results:&lt;\/i&gt; The patient and his mother had mutation 1 (nonsense mutation) in one chromosome. Although mutations 4 and 6 were undetectable, screening for mutation 4 revealed an abnormally migrating band. Consequently, we discovered a novel 4-bp deletion in exon 25 only in the patient. This mutation was not detected in any other family member. &lt;i&gt;Conclusion:&lt;\/i&gt; This is the first description of a patient with Werner\u2019s syndrome who has a compound heterozygote of mutation 1 and a novel deletion mutation.<\/jats:p>","DOI":"10.1159\/000058353","type":"journal-article","created":{"date-parts":[[2003,4,15]],"date-time":"2003-04-15T21:05:17Z","timestamp":1050440717000},"page":"215-219","source":"Crossref","is-referenced-by-count":5,"title":["A Novel Mutation in a Patient with Werner\u2019s Syndrome"],"prefix":"10.1159","volume":"48","author":[{"given":"Tomohiro","family":"Nakayama","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Toyoko","family":"Ochiai","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshiko","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kimie","family":"Ohkubo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Takashi","family":"Hironaga","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shinichiro","family":"Kokubun","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2002,6,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/355735a0"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1097-0142(19990315)85:6<1345::AID-CNCR18>3.3.CO;2-R"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050336"}],"container-title":["Gerontology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/58353","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/58353","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:00:03Z","timestamp":1745467203000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000058353"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002]]},"references-count":3,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2002,8,1]]}},"URL":"https:\/\/doi.org\/10.1159\/000058353","archive":["Portico"],"relation":{},"ISSN":["0304-324X","1423-0003"],"issn-type":[{"type":"print","value":"0304-324X"},{"type":"electronic","value":"1423-0003"}],"subject":[],"published":{"date-parts":[[2002]]}}}