Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis release_q5dz2qnxpbcvvpjjr3xkkvrdqm

by M. J. Smith, B. Isidor, C. Beetz, S. G. Williams, S. S. Bhaskar, W. Richer, J. O'Sullivan, B. Anderson, S. B. Daly, J. E. Urquhart, A. Fryer, C. F. Rustad (+8 others)

Published in Neurology by Ovid Technologies (Wolters Kluwer Health).

2014   Volume 84, Issue 2, p141-147

Abstract

We aimed to determine the proportion of individuals in our schwannomatosis cohort whose disease is associated with an LZTR1 mutation. 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. 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-positive patients in total had developed a UVS. Mosaicism was excluded in 3 patients without germline mutation in NF2, SMARCB1, or LZTR1 by mutation screening in 2 tumors from each. Our data confirm the relationship between mutations in LZTR1 and schwannomatosis. They indicate that germline mutations in LZTR1 confer an increased risk of vestibular schwannoma, providing further overlap with NF2, and that further causative genes for schwannomatosis remain to be identified.
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Type  article-journal
Stage   published
Date   2014-12-05
Language   en ?
DOI  10.1212/wnl.0000000000001129
PubMed  25480913
PMC  PMC4336087
Wikidata  Q30394068
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