A New Homozygous IGF1R Variant Defines a Clinically Recognizable Incomplete Dominant form of SHORT Syndrome. Issue 11 (24th August 2015)

• Record Type: Journal Article
• Authors: Prontera, Paolo; Micale, Lucia; Verrotti, Alberto; Napolioni, Valerio; Stangoni, Gabriela; Merla, Giuseppe
• Is Part Of: Human mutation. Volume 36:Issue 11(2015:Nov.)
• Page Start: 1043
• Page End: 1047
• Publication Date: 2015-08-24
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22853
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22853-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>The proband presented with clinical features of SHORT syndrome, high IGF1 levels, developmental delay, CNS defects, and marked progeroid appearance. Anew homozygous c.2201G&gt;T missense mutation in the <italic>IGF1R</italic> gene was identified. Functional studies in patient's cell lines showed a lower IGF1R expression that leads to the alteration of IGFlR‐mediated AKT downstream pathway. <graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgkfnq9vxc" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></p> </abstract>