Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.

ABSTRACT:

Background

In long QT syndrome type 1 (LQT1), the location and type of mutations have been shown to affect the clinical outcome. Although haploinsufficiency, including stop-codon and frameshift mutations, has been associated with a lower risk of cardiac events in patients with LQT1, nonsense mutations have been presumed functionally equivalent.

Objective

The purpose of this study was to evaluate clinical differences between patients with nonsense mutations.

Methods

The study sample comprised 1090 patients with genetically confirmed mutations. Patients were categorized into 5 groups, depending on mutation type and location: missense not located in the high-risk cytoplasmic loop (c-loop) (n = 698), which is used as reference; missense c-loop (n = 192); stop-codon (n = 6

SUBMITTER: Ruwald MH 

PROVIDER: S-EPMC4743743 | biostudies-literature | 2016 Jan

REPOSITORIES: biostudies-literature