KCNH2 mutation c.3099_3112del causes congenital long QT syndrome type 2 with gender differences.

ABSTRACT:

Introduction

Long QT Syndrome (LQTS) is an inherited disease with an abnormal electrical conduction system in the heart that can cause sudden death as a result of QT prolongation. LQT2 is the second most common subtype of LQTS caused by loss of function mutations in the potassium voltage-gated channel subfamily H member 2 (KCNH2) gene. Although more than 900 mutations are associated with the LQTS, many of these mutations are not validated or characterized.

Methods and results

Sequencing analyses of genomic DNA of a family with LQT2 identified a putative mutation. i.e., KCNH2(NM_000238.3): c.3099_3112del, in KCNH2 gene which appeared to be a definite pathogenic mutation. The family pedigree information showed a gender difference in clinical features and T-wave morphology betw

SUBMITTER: Ke Z 

PROVIDER: S-EPMC10562146 | biostudies-literature | 2023 Jan-Dec

REPOSITORIES: biostudies-literature