Morquio A Syndrome‐Associated Mutations: A Review of Alterations in the GALNS Gene and a New Locus‐Specific Database. Issue 11 (17th September 2014)

• Record Type: Journal Article
• Authors: Morrone, Amelia; Caciotti, Anna; Atwood, Robert; Davidson, Kathryn; Du, Chaoyi; Francis‐Lyon, Patricia; Harmatz, Paul; Mealiffe, Matthew; Mooney, Sean; Oron, Tal Ronnen; Ryles, April; Zawadzki, Karl A.; Miller, Nicole
• Is Part Of: Human mutation. Volume 35:Issue 11(2014:Nov.)
• Page Start: 1271
• Page End: 1279
• Publication Date: 2014-09-17
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22635
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22635-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>The mutations in <italic>GALNS</italic> causing Morquio A syndrome are both extremely heterogeneous and feature a high proportion of rare alleles; consequently, the discovery of previously unpublished <italic>GALNS</italic> alterations from patients with Morquio A is a relatively common occurrence. From previously published data, we find 277 unique <italic>GALNS</italic> alterations associated with Morquio A. This up‐to‐date summary of known <italic>GALNS</italic> alterations and accompanying locus‐specific database will be a resource for the Morquio A community. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh2cjmnjfg" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>