{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T05:50:12Z","timestamp":1790833812186,"version":"4.1.0"},"reference-count":22,"publisher":"BMJ","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2010,11,16]]},"published-print":{"date-parts":[[2011,4]]},"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Meningiomas have been reported to occur in approximately 50% of neurofibromatosis type 2 (NF2) patients. The\n                      <jats:italic>NF2<\/jats:italic>\n                      gene is commonly biallelically inactivated in both schwannomas and meningiomas. The spectrum of\n                      <jats:italic>NF2<\/jats:italic>\n                      mutations consists mainly of truncating (nonsense and frameshift) mutations. A smaller number of patients have missense mutations, which are associated with a milder disease phenotype.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      This study analysed the cumulative incidence and gender effects as well as the genotype\u2013phenotype correlation between the position of the\n                      <jats:italic>NF2<\/jats:italic>\n                      mutation and the occurrence of cranial meningiomas in a cohort of 411 NF2 patients with proven\n                      <jats:italic>NF2<\/jats:italic>\n                      mutations.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results and conclusion<\/jats:title>\n                    <jats:p>Patients with mutations in exon 14 or 15 were least likely to develop meningiomas. Cumulative risk of cranial meningioma to age 50\u2005years was 70% for exons 1\u20133, 81% for exons 4\u20136, 49% for exons 7\u20139, 56% for exons 10\u201313, and 28% for exons 14\u201315. In the cohort of 411 patients, no overall gender bias was found for occurrence of meningioma in NF2 disease. Cumulative incidence of meningioma was close to 80% by 70\u2005years of age for both males and females, but incidence by age 20\u2005years was slightly increased in males (male 25%, female 18%; p=0.023). Conversely, an increased risk of meningiomas in women with mosaic NF2 disease was also found.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1136\/jmg.2010.085241","type":"journal-article","created":{"date-parts":[[2011,1,29]],"date-time":"2011-01-29T20:25:39Z","timestamp":1296332739000},"page":"261-265","source":"Crossref","is-referenced-by-count":113,"title":["Cranial meningiomas in 411 neurofibromatosis type 2 (NF2) patients with proven gene mutations: clear positional effect of mutations, but absence of female severity effect on age at onset"],"prefix":"10.1136","volume":"48","author":[{"given":"Miriam J","family":"Smith","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jenny E","family":"Higgs","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Naomi 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