H19DMR methylation analysis in patients with Beckwith-Wiedemann syndrome and isolated hemihyperplasia

Genetics and Molecular Biology

Marcus Vinícius De Matos Gomes¹  Sílvio Avelino Dos Santos¹  Ester Silveira Ramos¹ 

[1] ,Universidade de São Paulo Faculdade de Medicina de Ribeirão Preto Departamento de GenéticaRibeirão Preto São Paulo ,Brazil

关键词: Beckwith-Wiedemann syndrome;    isolated hemihyperplasia;    genomic imprinting;    DNA methylation;    uniparental disomy;    H19DMR;   

DOI  :  10.1590/S1415-47572005000200005

来源: SciELO

【 摘 要 】

Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder of complex and heterogeneous etiology involving alterations in genomic imprinting. The cause of isolated hemihyperplasia (IHH) is unknown but might be due to partial or incomplete expression of BWS because both these conditions share predisposition for the same types of neoplasias. We investigated the methylation pattern of the putative imprinting control region H19DMR using peripheral blood from 12 patients, six with clinical features of BWS and six with IHH. All the patients had normal karyotypes and paternal uniparental disomy (UPD) was excluded in 10 informative cases. The normal H19DMR methylation pattern was found in eight informative patients, indicating that H19DMR methylation was not related to their condition. We suggest that the absence of neoplasias in the BWS and IHH patients studied might be related to the absence of UPD and to the presence of normal H19DMR methylation.

【 授权许可】

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