{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T21:44:01Z","timestamp":1790891041711,"version":"4.1.0"},"reference-count":11,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2011,1,24]],"date-time":"2011-01-24T00:00:00Z","timestamp":1295827200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["BMC Neurol"],"published-print":{"date-parts":[[2011,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n          <jats:sec>\n            <jats:title>Background<\/jats:title>\n            <jats:p>Schwannomatosis is a disease characterized by multiple non-vestibular schwannomas. Although biallelic <jats:italic>NF2<\/jats:italic> mutations are found in schwannomas, no germ line event is detected in schwannomatosis patients. In contrast, germline mutations of the <jats:italic>SMARCB1<\/jats:italic> (<jats:italic>INI1<\/jats:italic>) tumor suppressor gene were described in familial and sporadic schwannomatosis patients.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Methods<\/jats:title>\n            <jats:p>To delineate the <jats:italic>SMARCB1<\/jats:italic> gene contribution, the nine coding exons were sequenced in a series of 56 patients affected with a variable number of non-vestibular schwannomas.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Results<\/jats:title>\n            <jats:p>Nine variants scattered along the sequence of <jats:italic>SMARCB1<\/jats:italic> were identified. Five of them were classified as deleterious. All five patients carrying a <jats:italic>SMARCB1<\/jats:italic> mutation had more multiple schwannomas, corresponding to 10.2% of patients with schwannomatosis. They were also diagnosed before 35 years of age.<\/jats:p>\n          <\/jats:sec>\n          <jats:sec>\n            <jats:title>Conclusions<\/jats:title>\n            <jats:p>These results suggest that patients with schwannomas have a significant probability of carrying a <jats:italic>SMARCB1<\/jats:italic> mutation. Combined with data available from other studies, they confirm the clinical indications for genetic screening of the <jats:italic>SMARCB1<\/jats:italic> gene.<\/jats:p>\n          <\/jats:sec>","DOI":"10.1186\/1471-2377-11-9","type":"journal-article","created":{"date-parts":[[2011,1,25]],"date-time":"2011-01-25T07:14:33Z","timestamp":1295939673000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":80,"title":["SMARCB1\/INI1 germline mutations contribute to 10% of sporadic schwannomatosis"],"prefix":"10.1186","volume":"11","author":[{"given":"Guillaume","family":"Rousseau","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuro","family":"Noguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Violaine","family":"Bourdon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hagay","family":"Sobol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sylviane","family":"Olschwang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2011,1,24]]},"reference":[{"key":"416_CR1","first-page":"E81","volume":"6","author":"C Lu-Emerson","year":"2009","unstructured":"Lu-Emerson C, Plotkin SR: The neurofibromatoses. 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