Functional study and pathogenicity classification of PRRT2 missense variants in PRRT2-related disorders.

ABSTRACT:

Aims

PRRT2 variants are associated with various paroxysmal disorders. To date, more than 90 PRRT2 variants have been reported in PRRT2-related disorders. Lack of functional study in majority of missense variants makes their pathogenicity uncertain. We aim to evaluate the clinical significance of PRRT2 missense variants by performing in vitro experiments.

Methods

We systematically reviewed PRRT2-related disorders and summarized reported PRRT2 missense variants. Protein expression and subcellular localization of mutant PRRT2 were investigated in mammal cells. American College of Medical Genetics and Genomics (ACMG) guidelines were used to analyze the pathogenicity of PRRT2 missense variants.

Results

A total of 29 PRRT2 missense variants were identified in PRRT2-related

SUBMITTER: Zhao SY 

PROVIDER: S-EPMC6930815 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature