Kir2.2 p.Thr140Met: a genetic susceptibility to sporadic periodic paralysis.

ABSTRACT:

Introduction

Periodic paralyses (PP) are recurrent episodes of flaccid limb muscle weakness. Next to autosomal dominant forms, sporadic PP (SPP) cases are known but their genetics are unclear.

Methods

In a patient with hypokalemic SPP, we performed exome sequencing to identify a candidate gene. We sequenced this gene in 263 unrelated PP patients without any known causative mutations. Then we performed functional analysis of all variants found and molecular modelling for interpretation.

Results

Exome sequencing in the proband yielded three heterozygous variants predicted to be linked to disease. These encoded p.Thr140Met in the Kir2.2 potassium channel, p.Asp229Asn in protein kinase C theta, and p.Thr15943Ile in titin. Since all hitherto known causative PP genes code f

SUBMITTER: Fan C 

PROVIDER: S-EPMC6390110 | biostudies-literature | 2018 Sep

REPOSITORIES: biostudies-literature