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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.

1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes