Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.

ABSTRACT:

Background

Andersen-Tawil syndrome (ATS) is a rare inherited disorder, characterised by periodic paralysis, cardiac dysarrhythmias, and dysmorphic features, and is caused by mutations in the gene KCNJ2, which encodes the inward rectifier potassium channel, Kir2.1. This study sought to analyse KCNJ2 in patients with familial ATS and to determine the functional characteristics of the mutated gene.

Methods and results

We screened a family with inherited ATS for the mutation in KCNJ2, using direct DNA sequencing. A missense mutation (T75R) of Kir2.1, located in the highly conserved cytoplasmic N-terminal domain, was identified in three affected members of this family. Using the Xenopus oocyte expression system and whole cell voltage clamp analyses, we found that the T75R mutant

SUBMITTER: Lu CW 

PROVIDER: S-EPMC2564587 | biostudies-literature | 2006 Aug

REPOSITORIES: biostudies-literature