A New Overgrowth Syndrome is due to Mutations in RNF125. Issue 12 (December 2014)

• Record Type: Journal Article
• Authors: Tenorio, Jair; Mansilla, Alicia; Valencia, María; Martínez‐Glez, Víctor; Romanelli, Valeria; Arias, Pedro; Castrejón, Nerea; Poletta, Fernando; Guillén‐Navarro, Encarna; Gordo, Gema; Mansilla, Elena; García‐Santiago, Fé; González‐Casado, Isabel; Vallespín, Elena; Palomares, María; Mori, María A.; Santos‐Simarro, Fernando; García‐Miñaur, Sixto; Fernández, Luis; Mena, Rocío; Benito‐Sanz, Sara; del Pozo, Ángela; Silla, Juan Carlos; Ibañez, Kristina; López‐Granados, Eduardo; Martín‐Trujillo, Alex; Montaner, David; The SOGRI Consortium; Heath, Karen E.; Campos‐Barros, Ángel; Dopazo, Joaquín; Nevado, Julián; Monk, David; Ruiz‐Pérez, Víctor L.; Lapunzina, Pablo;
• Is Part Of: Human mutation. Volume 35:Issue 12(2014:Dec.)
• Page Start: 1436
• Page End: 1441
• Publication Date: 2014-12
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22689
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22689-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We have identified four mutations in a novel overgrowth gene, <italic>RNF125</italic> (Fig A), in six patients with overgrowth, macrocephaly, intellectual disability, mild hydrocephaly, hypoglycaemia and inflammatory diseases resembling Sjögren syndrome. <italic>RNF125</italic> encodes an E3 ubiquitin ligase. Functional characterisation showed that the mutations resulted in a dysregulation of RNF125 mRNA expression (Fig B). Additionally, clear differences in induction and degradation kinetics of RIG‐I, a RNF125 target protein, between patients and control fibroblasts were observed (Fig C‐E). <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgh2cpxhwbr" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>