A novel leucine zipper-like transcriptional regulator 1 variant identified in a pair of siblings with familial schwannomatosis

There are still schwannomatosis cases with novel switch/sucrose non-fermentable-related matrix-associated actin-dependent regulators of chromatin subfamily B member 1 or LZTR1 mutations to be reported. We report the first three cases of the c.263+1del LZTR1 pathogenic variant causing LZTR1-related schwannomatosis initially found in the two siblings. Identifying further LZTR1 pathogenic variants can give more insight into the pathogenicity of each variant.