Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.

ABSTRACT:

Background

High throughput sequencing technologies have revolutionized the identification of mutations responsible for genetic diseases such as hypertrophic cardiomyopathy (HCM). However, approximately 50% of individuals with a clinical diagnosis of HCM have no causal mutation identified. This may be due to the presence of pathogenic mutations located deep within the introns, which are not detected by conventional sequencing analysis restricted to exons and exon-intron boundaries.

Objective

The aim of this study was to develop a whole-gene sequencing strategy to prioritize deep intronic variants that may play a role in HCM pathogenesis.

Methods and results

The full genomic DNA sequence of 26 genes previously associated with HCM was analysed in 16 unrelated patients. W

SUBMITTER: Mendes de Almeida R 

PROVIDER: S-EPMC5552324 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature