%0 Journal Article
%T 1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes
%A De Molfetta Greice Andreotti
%A Ferreira Cristiane Ayres
%A Vidal Daniel Onofre
%A de Rosso Giuliani Liane
%J BMC Medical Genetics
%D 2012
%I BioMed Central
%R 10.1186/1471-2350-13-124
%X 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 severe phenotype whereas his sister shows a milder phenotype presenting the typical AS features. Conclusions We hypothesized that the mutation Leu125Stop causes both severe and milder phenotypes. Potential mechanisms include: i) maybe the proband has an additional problem (genetic or environmental) besides the UBE3A mutation; ii) since the two siblings have different fathers, the UBE3A mutation is interacting with a different genetic variant in the proband that, by itself, does not cause problems but in combination with the UBE3A mutation causes the severe phenotype; iii) this UBE3A mutation alone can cause either typical AS or the severe clinical picture seen in the proband.
%K Angelman syndrome
%K UBE3A gene
%K Imprinting
%K Novel mutation
%K Distinct phenotypes
%K HRM
%U http://www.biomedcentral.com/1471-2350/13/124