Rare LRP6 Variants Identified in Spina Bifida Patients. Issue 3 (March 2015)

• Record Type: Journal Article
• Authors: Lei, Yunping; Fathe, Kristin; McCartney, Danielle; Zhu, Huiping; Yang, Wei; Ross, M. Elizabeth; Shaw, Gary M.; Finnell, Richard H.
• Is Part Of: Human mutation. Volume 36:Issue 3(2015:Mar.)
• Page Start: 342
• Page End: 349
• Publication Date: 2015-03
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22750
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22750-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>This study identified four rare LRP6 single neucleotide variants in spina bifida cases. One variant, named p.Tyr544Cys, like Crooked tail and Ringleschwanz mouse variants, disrupted Lrp6 interaction with MESDC2 and impaired Lrp6 subcellular localization. Functional studies of the four LRP6 variants indicated that Lrp6 modulation of Wnt/PCP singaling might be more essential than its canonical Wnt pathway role in neural tube closure. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgjb80xb9p" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>