Early Frameshift Mutation in PIGA Identified in a Large XLID Family Without Neonatal Lethality. Issue 3 (13th January 2014)

• Record Type: Journal Article
• Authors: Belet, Stefanie; Fieremans, Nathalie; Yuan, Xuan; Van, Hilde; Verbeeck, Jelle; Ye, Zhaohui; Cheng, Linzhao; Brodsky, Brett R.; Hu, Hao; Kalscheuer, Vera M.; Brodsky, Robert A.; Froyen, Guy
• Is Part Of: Human mutation. Volume 35:Issue 3(2014:Mar.)
• Page Start: 350
• Page End: 355
• Publication Date: 2014-01-13
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22498
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22498-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Loss‐of‐function mutations in the <italic>PIGA</italic> gene are normally lethal in utero. In this study however, we report a loss‐of‐function <italic>PIGA</italic> mutation in boys from a large family who were diagnosed with a severe form of intellectual disability. Based on functional assays, we provide evidence that this mutation results in the production of a shorter PIGA protein with residual functionality which is sufficient to rescue the lethality but still results in clinical features including intellectual disability. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg4stk8vrk" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>