Mosaicism for SMARCB1 or LZTR1 variants in patients with schwannomatosis in the UAB cohort

Unlike NF1 or NF2 variants in patients with neurofibromatosis type 1 or 2, mosaicism for SMARCB1 or LZTR1 variants has not been widely reported in patients with schwannomatosis. So far, SMARCB1 germline mosaicism was reported only in one family and no patients with mosaic LZTR1-associated schwannomatosis have been reported in the literature. The purpose of this study was to evaluate the incidence of mosaic SMARCB1 or LZTR1 variants in patients with schwannomatosis.