The Spectrum of ELANE Mutations and their Implications in Severe Congenital and Cyclic Neutropenia. Issue 6 (2nd April 2013)

• Record Type: Journal Article
• Authors: Germeshausen, Manuela; Deerberg, Sabine; Peter, Yvonne; Reimer, Christina; Kratz, Christian P.; Ballmaier, Matthias
• Is Part Of: Human mutation. Volume 34:Issue 6(2013:Jun.)
• Page Start: 905
• Page End: 914
• Publication Date: 2013-04-02
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22308
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22308-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We analyzed the spectrum of <italic>ELANE</italic> mutations, which are responsible for the majority of cases of severe congenital neutropenia (CN) and cyclic neutropenia (CyN). Using predictive algorithms we found a trend for a more benign prediction of CyN‐associated mutations compared to those associated with CN. Within the group of CN the course of disease was more severe in patients with <italic>ELANE</italic> mutation compared to patients without <italic>ELANE</italic> mutations. The predictive value of specific <italic>ELANE</italic> mutations for leukemogenesis was low. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg20pg5840" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>