Article
MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy.
Human molecular genetics - 1 Jan 2017
Piccolo Pasquale, Attanasio Sergio, Secco Ilaria, Sangermano Riccardo, Strisciuglio Caterina, Limongelli Giuseppe, Miele Erasmo, Mutarelli Margherita, Banfi Sandro, Nigro Vincenzo, Pons Tirso, Valencia Alfonso, Zentilin Lorena, Campione Severo, Nardone Gerardo, Lynnes Ty C, Celestino-Soper Patricia B S, Spoonamore Katherine G, D'Armiento Francesco P, Giacca Mauro, Staiano Annamaria, Vatta Matteo, Collesi Chiara, Brunetti-Pierri Nicola
Abstract excerpt
We performed whole exome sequencing in individuals from a family with autosomal dominant gastropathy resembling Ménétrier disease, a premalignant gastric disorder with epithelial hyperplasia and enhanced EGFR signalling. Ménétrier disease is believed to be an acquired disorder, but its aetiology is unknown. In affected members, we found a missense p.V742G variant in MIB2, a gene regulating NOTCH signalling that...
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