Mutations in ribonucleic acid binding protein gene cause familial dilated cardiomyopathy.

ABSTRACT:

Objectives

We sought to identify a novel gene for dilated cardiomyopathy (DCM).

Background

DCM is a heritable, genetically heterogeneous disorder that remains idiopathic in the majority of patients. Familial cases provide an opportunity to discover unsuspected molecular bases of DCM, enabling pre-clinical risk detection.

Methods

Two large families with autosomal-dominant DCM were studied. Genome-wide linkage analysis was used to identify a disease locus, followed by fine mapping and positional candidate gene sequencing. Mutation scanning was then performed in 278 unrelated subjects with idiopathic DCM, prospectively identified at the Mayo Clinic.

Results

Overlapping loci for DCM were independently mapped to chromosome 10q25-q26. Deoxyribonucleic acid sequencing

SUBMITTER: Brauch KM 

PROVIDER: S-EPMC2782634 | biostudies-literature | 2009 Sep

REPOSITORIES: biostudies-literature