Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population.

ABSTRACT: Schwannomatosis is a rare tumor predisposition syndrome that causes multiple schwannomas. Germline loss-of-function (LoF) LZTR1 variants were only recently identified as disease-causing, so relatively few variants have been identified in patients. In addition, many LoF variants exist in Genome Aggregation Database (gnomAD) in people who do not have clinical symptoms of schwannomatosis. These factors, and the incomplete penetrance seen in this condition, hinder definitive interpretation of the clinical significance of novel LoF variants identified in schwannomatosis patients. We collated published LOF LZTR1 variants identified in schwannomatosis patients and classified them according to current American College of Medical Genetics and Genomics/Association for Molecular Pathology/Association

SUBMITTER: Deng F 

PROVIDER: S-EPMC9324957 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature