Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis.

ABSTRACT:

Objectives

We aimed to determine the proportion of individuals in our schwannomatosis cohort whose disease is associated with an LZTR1 mutation.

Methods

We used exome sequencing, Sanger sequencing, and copy number analysis to screen 65 unrelated individuals with schwannomatosis who were negative for a germline NF2 or SMARCB1 mutation. We also screened samples from 39 patients with a unilateral vestibular schwannoma (UVS), plus at least one other schwannoma, but who did not have an identifiable germline or mosaic NF2 mutation.

Results

We identified germline LZTR1 mutations 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 UVS in our cohort. Three germline mutation-positiv

SUBMITTER: Smith MJ 

PROVIDER: S-EPMC4336087 | biostudies-literature | 2015 Jan

REPOSITORIES: biostudies-literature