A novel mutation in the HCN4 gene causes symptomatic sinus bradycardia in Moroccan Jews.

ABSTRACT:

Objectives

to conduct a clinical, genetic, and functional analysis of 3 unrelated families with familial sinus bradycardia (FSB).

Background

mutations in the hyperpolarization-activated nucleotide-gated channel (HCN4) are known to be associated with FSB.

Methods and results

three males of Moroccan Jewish descent were hospitalized: 1 survived an out-of-hospital cardiac arrest and 2 presented with weakness and presyncopal events. All 3 had significant sinus bradycardia, also found in other first-degree relatives, with a segregation suggesting autosomal-dominant inheritance. All had normal response to exercise and normal heart structure. Sequencing of the HCN4 gene in all patients revealed a C to T transition at nucleotide position 1,454, which resulted in an alanine to

SUBMITTER: Laish-Farkash A 

PROVIDER: S-EPMC3005590 | biostudies-literature | 2010 Dec

REPOSITORIES: biostudies-literature