Article
1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes.
BMC medical genetics - 20 Dec 2012
De Molfetta Greice Andreotti, Ferreira Cristiane Ayres, Vidal Daniel Onofre, Giuliani Liane de Rosso, Maldonado Maria José, Silva Wilson Araujo
Abstract excerpt
BACKGROUND: More than 50 mutations in the UBE3A gene (E6-AP ubiquitin protein ligase gene) have been found in Angelman syndrome patients with no deletion, no uniparental disomy, and no imprinting defect. CASE PRESENTATION: We here describe a novel UBE3A frameshift mutation in two siblings who have inherited it from their asymptomatic mother. Despite carrying the same UBE3A mutation, the proband shows a more...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.