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

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