Hypomorphic NOTCH3 Alleles Do Not Cause CADASIL in Humans. Issue 11 (7th October 2013)

• Record Type: Journal Article
• Authors: Rutten, Julie W.; Boon, Elles M.J.; Liem, Michael K.; Dauwerse, Johannes G.; Pont, Margot J.; Vollebregt, Ellen; Maat‐Kievit, Anneke J.; Ginjaar, Hendrika B.; Lakeman, Phillis; van, Sjoerd G.; Terwindt, Gisela M.; Lesnik Oberstein, Saskia A.J.
• Is Part Of: Human mutation. Volume 34:Issue 11(2013:Nov.)
• Page Start: 1486
• Page End: 1489
• Publication Date: 2013-10-07
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22432
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22432-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>In this study, we address the previously unresolved issue of the role of hypomorphic <italic>NOTCH3</italic> alleles in CADASIL. Based on extensive investigations of two families, we show that hypomorphic <italic>NOTCH3</italic> alleles do not cause CADASIL. Furthermore, we describe the first patient who is compound heterozygous for a typical cysteine altering NOTCH3 missense mutation and a large intragenic <italic>NOTCH3</italic> deletion who, interestingly, has a phenotype within the normal CADASIL spectrum. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3j6prkp0" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>