{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,15]],"date-time":"2026-10-15T10:18:36Z","timestamp":1792059516584,"version":"4.4.0"},"reference-count":22,"publisher":"BMJ","issue":"7","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"published-print":{"date-parts":[[2007,7]]},"abstract":"<jats:p>\n                  <jats:bold>Background:<\/jats:bold> Neurofibromatosis type 2 (NF2) is almost unique among inherited disorders in the frequency of mosaicism in the first affected generation. However, the implications of this on transmission risks have not been fully elucidated.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Methods:<\/jats:bold> The expanded database of 460 families with NF2 and 704 affected individuals was analysed for mosaicism and transmission risks to offspring.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Results:<\/jats:bold> 64 mosaic patients, with a projected mosaicism rate of 33% for sporadic classical NF2 with bilateral vestibular schwannoma at presentation and 60% for those presenting unilaterally, were identified. Offspring risks can be radically reduced on the basis of a sensitive mutation analysis of blood DNA including multiple ligation-dependent probe amplification (MLPA, which detects 15% of all mutations), but even MLPA cannot detect high levels of mosaicism.<\/jats:p>\n               <jats:p>\n                  <jats:bold>Conclusion:<\/jats:bold> The chances of mosaicism in NF2 and the resultant risks of transmission of the mutation to offspring in a number of different clinical situations have been further delineated. The use of MLPA in this large NF2 series is also reported for the first time.<\/jats:p>","DOI":"10.1136\/jmg.2006.047753","type":"journal-article","created":{"date-parts":[[2007,2,16]],"date-time":"2007-02-16T20:43:55Z","timestamp":1171658635000},"page":"424-428","source":"Crossref","is-referenced-by-count":157,"title":["Mosaicism in neurofibromatosis type 2: an update of risk based on uni\/bilaterality of vestibular schwannoma at presentation and sensitive mutation analysis including multiple ligation-dependent probe amplification"],"prefix":"10.1136","volume":"44","author":[{"given":"D Gareth R","family":"Evans","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R 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