SMARCB1/INI1 germline mutations contribute to 10% of sporadic schwannomatosis

• Main Authors: Bourdon Violaine, Noguchi Tetsuro, Rousseau Guillaume, Sobol Hagay, Olschwang Sylviane
• Format: Article
• Language: English
• Published: BMC 2011-01-01
• Series: BMC Neurology
• Online Access: http://www.biomedcentral.com/1471-2377/11/9

<p>Abstract</p> <p>Background</p> <p>Schwannomatosis is a disease characterized by multiple non-vestibular schwannomas. Although biallelic <it>NF2 </it>mutations are found in schwannomas, no germ line event is detected in schwannomatosis patients. In contrast, germline mutations of the <it>SMARCB1 </it>(<it>INI1</it>) tumor suppressor gene were described in familial and sporadic schwannomatosis patients.</p> <p>Methods</p> <p>To delineate the <it>SMARCB1 </it>gene contribution, the nine coding exons were sequenced in a series of 56 patients affected with a variable number of non-vestibular schwannomas.</p> <p>Results</p> <p>Nine variants scattered along the sequence of <it>SMARCB1 </it>were identified. Five of them were classified as deleterious. All five patients carrying a <it>SMARCB1 </it>mutation had more multiple schwannomas, corresponding to 10.2% of patients with schwannomatosis. They were also diagnosed before 35 years of age.</p> <p>Conclusions</p> <p>These results suggest that patients with schwannomas have a significant probability of carrying a <it>SMARCB1 </it>mutation. Combined with data available from other studies, they confirm the clinical indications for genetic screening of the <it>SMARCB1 </it>gene.</p>