Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
/Neurology
Germline LZTR1 mutations were identified in 6 of 16 patients (37.5%) with schwannomatosis who had at least one affected relative, 11 of 49 (22%) sporadic patients, and 2 of 39 patients with a unilateral vestibular schwannoma (UVS), suggesting a relationship between mutations in LZTR1 and schwannomatosis. Germline mutations in LZTR1 appear to confer an increased risk of vestibular schwannoma, providing further overlap with NF2, and further causative genes for schwannomatosis remain to be identified.
