A Rising Titan: TTN Review and Mutation Update. Issue 9 (21st July 2014)

• Record Type: Journal Article
• Authors: Chauveau, Claire; Rowell, John; Ferreiro, Ana
• Is Part Of: Human mutation. Volume 35:Issue 9(2014:Sep.)
• Page Start: 1046
• Page End: 1059
• Publication Date: 2014-07-21
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22611
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22611-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>The 364 exon <italic>TTN</italic> gene encodes the giant protein titin, a key player in cardiac and skeletal muscles. Lately, NGS is revealing <italic>TTN</italic> as a major gene in human inherited disease, with 127 <italic>TTN</italic> disease‐causing mutations reported in patients with at least 10 different conditions. Here we provide the first comprehensive update of the <italic>TTN</italic> mutations reported and discuss their distribution, molecular mechanisms, associated phenotypes, transmission pattern and phenotype‐genotype correlations, alongside with their implications for basic research and human health. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh11pns8vv" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>