Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.
作者： M. J. Smith , B. Isidor , C. Beetz , S. G. Williams , S. S. Bhaskar
DOI: 10.1212/WNL.0000000000001129
关键词: Sanger sequencing 、 Loss of heterozygosity 、 Germline mutation 、 Schwannomatosis 、 Biology 、 Mutation (genetic algorithm) 、 Genetics 、 Exome sequencing 、 Copy number analysis 、 Germline
摘要: Objectives: We aimed to determine the proportion of individuals in our schwannomatosis cohort whose disease is associated with an LZTR1 mutation. Methods: used exome sequencing, Sanger and copy number analysis screen 65 unrelated who were negative for a germline NF2 or SMARCB1 also screened samples from 39 patients unilateral vestibular schwannoma (UVS), plus at least one other schwannoma, but did not have identifiable mosaic Results: identified mutations 6 16 (37.5%) had affected relative, 11 49 (22%) sporadic patients, 2 UVS cohort. Three mutation–positive total developed UVS. Mosaicism was excluded 3 without mutation , by screening tumors each. Conclusions: Our data confirm relationship between schwannomatosis. They indicate that confer increased risk providing further overlap NF2, causative genes remain be identified.
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