期刊论文详细信息
BMC Medical Genetics
1031-1034delTAAC (Leu125Stop): a novel familial UBE3A mutation causing Angelman syndrome in two siblings showing distinct phenotypes
Wilson Araujo Silva2  Maria José Maldonado1  Liane de Rosso Giuliani1  Daniel Onofre Vidal3  Cristiane Ayres Ferreira3  Greice Andreotti De Molfetta2 
[1] Department of Pediatrics, Federal University of Mato Grosso do Sul, Campo Grande, Brazil;CTC – Centro de Terapia Celular da Fundação Hemocentro de Ribeirão Preto, Laboratório de Genética Molecular e Bioinformática, Depto. De Genética, Rua Tenente Catão Roxo, 2501, 14051-140, Ribeirão Preto, São Paulo, Brazil;Regional Blood Center of Ribeirao Preto and National Institute of Science and Technology in Cell Therapy, Ribeirao Preto, Brazil
关键词: HRM;    Distinct phenotypes;    Novel mutation;    Imprinting;    UBE3A gene;    Angelman syndrome;   
Others  :  1177755
DOI  :  10.1186/1471-2350-13-124
 received in 2011-12-19, accepted in 2012-12-13,  发布年份 2012
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【 摘 要 】

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.

【 授权许可】

   
2012 De Molfetta et al.; licensee BioMed Central Ltd.

【 预 览 】
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