{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,11]],"date-time":"2026-02-11T21:01:01Z","timestamp":1770843661068,"version":"3.50.1"},"reference-count":15,"publisher":"BMJ","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2000,1,1]]},"abstract":"<jats:p>Pulmonary lymphangioleiomyomatosis (LAM) is a rare disorder limited almost exclusively to women of reproductive age. LAM affects about 5% of women with tuberous sclerosis complex (TSC). LAM also occurs in women who do not have TSC (sporadic LAM). TSC is a tumour suppressor gene syndrome characterised by seizures, mental retardation, and tumours in the brain, heart, and kidney. Angiomyolipomas, which are benign tumours with smooth muscle, fat, and dysplastic vascular components, are the most common renal tumour in TSC. Renal angiomyolipomas also occur in 63% of sporadic LAM patients. We recently found that 54% of these angiomyolipomas have<jats:italic>TSC2<\/jats:italic> loss of heterozygosity, leading to the hypothesis that sporadic LAM is genetically related to TSC. In this study, we screened DNA from 21 women with sporadic LAM for mutations in all 41 exons of <jats:italic>TSC2<\/jats:italic>. Twelve of the patients had known renal angiomyolipomas. No <jats:italic>TSC2<\/jats:italic>mutations were detected. We did find three silent<jats:italic>TSC2<\/jats:italic> polymorphisms. We conclude that patients with sporadic LAM, including those with renal angiomyolipomas, do not have a high frequency of germline mutations in the coding region of <jats:italic>TSC2<\/jats:italic>.<\/jats:p>","DOI":"10.1136\/jmg.37.1.55","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T06:37:59Z","timestamp":1027751879000},"page":"55-57","source":"Crossref","is-referenced-by-count":94,"title":["Mutational analysis of the tuberous sclerosis gene<i>TSC2<\/i> in patients with pulmonary lymphangioleiomyomatosis"],"prefix":"10.1136","volume":"37","author":[{"given":"Aristotelis","family":"Astrinidis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leena","family":"Khare","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Thomas","family":"Carsillo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Teresa","family":"Smolarek","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kit-Sing","family":"Au","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hope","family":"Northrup","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elizabeth Petri","family":"Henske","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2000,1,1]]},"reference":[{"key":"2025101723520771000_37.1.55.1","doi-asserted-by":"publisher","DOI":"10.1378\/chest.114.6.1689"},{"key":"2025101723520771000_37.1.55.2","doi-asserted-by":"publisher","DOI":"10.1164\/ajrccm.155.4.9105053"},{"key":"2025101723520771000_37.1.55.3","doi-asserted-by":"publisher","DOI":"10.1378\/chest.107.1.189"},{"key":"2025101723520771000_37.1.55.4","doi-asserted-by":"publisher","DOI":"10.1016\/0090-4295(93)90504-4"},{"key":"2025101723520771000_37.1.55.5","doi-asserted-by":"crossref","first-page":"2138","DOI":"10.1164\/ajrccm.152.6.8520787","article-title":"How common are renal angiomyolipomas in patients with pulmonary lymphangiomyomatosis.","volume":"152","author":"Bernstein","year":"1995","journal-title":"Am J Respir Crit Care Med"},{"key":"2025101723520771000_37.1.55.6","doi-asserted-by":"publisher","DOI":"10.1378\/chest.115.4.1041"},{"key":"2025101723520771000_37.1.55.7","doi-asserted-by":"publisher","DOI":"10.1183\/09031936.96.09030399"},{"key":"2025101723520771000_37.1.55.8","doi-asserted-by":"publisher","DOI":"10.1126\/science.277.5327.805"},{"key":"2025101723520771000_37.1.55.9","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90618-Z"},{"key":"2025101723520771000_37.1.55.10","first-page":"400","article-title":"Allelic loss is frequent in tuberous sclerosis kidney lesions but rare in brain lesions.","volume":"59","author":"Henske","year":"1996","journal-title":"Am J Hum Genet"},{"key":"2025101723520771000_37.1.55.11","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.2870130411"},{"key":"2025101723520771000_37.1.55.12","doi-asserted-by":"publisher","DOI":"10.1086\/301804"},{"key":"2025101723520771000_37.1.55.13","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1086\/301705","article-title":"Germ-line mutational analysis of the TSC2 gene in 90 tuberous sclerosis patients.","volume":"62","author":"Au","year":"1997","journal-title":"Am J Hum Genet"},{"key":"2025101723520771000_37.1.55.14","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.5.801"},{"key":"2025101723520771000_37.1.55.15","doi-asserted-by":"publisher","DOI":"10.1086\/514888"}],"container-title":["Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jmg.37.1.55","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T06:52:13Z","timestamp":1760770333000},"score":1,"resource":{"primary":{"URL":"https:\/\/jmg.bmj.com\/lookup\/doi\/10.1136\/jmg.37.1.55"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2000,1,1]]},"references-count":15,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2000,1,1]]},"published-print":{"date-parts":[[2000,1,1]]}},"alternative-id":["10.1136\/jmg.37.1.55"],"URL":"https:\/\/doi.org\/10.1136\/jmg.37.1.55","relation":{},"ISSN":["0022-2593","1468-6244"],"issn-type":[{"value":"0022-2593","type":"print"},{"value":"1468-6244","type":"electronic"}],"subject":[],"published":{"date-parts":[[2000,1,1]]}}}