Mutations in TAX1BP3 Cause Dilated Cardiomyopathy with Septo‐Optic Dysplasia. Issue 4 (16th March 2015)

• Record Type: Journal Article
• Authors: Reinstein, Eyal; Orvin, Katia; Tayeb‐Fligelman, Einav; Stiebel‐Kalish, Hadas; Tzur, Shay; Pimienta, Allen L.; Bazak, Lily; Bengal, Tuvia; Cohen, Lior; Gaton, Dan D.; Bormans, Concetta; Landau, Meytal; Kornowski, Ran; Shohat, Mordechai; Behar, Doron M.
• Is Part Of: Human mutation. Volume 36:Issue 4(2015:Apr.)
• Page Start: 439
• Page End: 442
• Publication Date: 2015-03-16
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22759
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22759-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>The term hereditary cardiomyopathy has been applied to heritable forms of heart failure with identifiable inheritance patterns. Although many cardiomyopathies have a genetic basis, only a limited number of genes have been identified as disease loci. We describe a novel cardiomyopathy syndrome caused by mutations in <italic>TAX1BP3</italic>; a gene previously not connected to monogenic disorders, thus expanding the spectrum of hereditary cardiomyopathies and suggests that <italic>TAX1BP3</italic> is essential for heart development. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgjdndb2pq" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>