Functional characterization of ABCC9 variants identified in sudden unexpected natural death.

ABSTRACT:

Background

Genetic variation in ion channel genes ('channelopathies') are often associated with inherited arrhythmias and sudden death. Genetic testing ('molecular autopsies') of channelopathy genes can be used to assist in determining the likely causes of sudden unexpected death. However, different in silico approaches can yield conflicting pathogenicity predictions and assessing their impact on ion channel function can assist in this regard.

Methods and results

We performed genetic testing of cases of sudden expected death in the New York City metropolitan area and found four rare or novel variants in ABCC9, which codes for the regulatory SUR2 subunit of K_ATP channels. All were missense variants, causing amino acid changes in the protein. Three of the variants (

SUBMITTER: Subbotina E 

PROVIDER: S-EPMC6527451 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature