Prevalence of Titin Truncating Variants in General Population.

ABSTRACT:

Background

Truncating titin (TTN) mutations, especially in A-band region, represent the most common cause of dilated cardiomyopathy (DCM). Clinical interpretation of these variants can be challenging, as these variants are also present in reference populations. We carried out systematic analyses of TTN truncating variants (TTNtv) in publicly available reference populations, including, for the first time, data from Exome Aggregation Consortium (ExAC). The goal was to establish more accurate estimate of prevalence of different TTNtv to allow better clinical interpretation of these findings.

Methods and results

Using data from 1000 Genomes Project, Exome Sequencing Project (ESP) and ExAC, we estimated the prevalence of TTNtv in the population. In the three population datasets,

SUBMITTER: Akinrinade O 

PROVIDER: S-EPMC4689403 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature