H19DMR methylation analysis in patients with Beckwith-Wiedemann syndrome and isolated hemihyperplasia
Genet. mol. biol
;
28(2): 210-213, 2005. ilus, tab
Artigo
em Inglês
| LILACS
| ID: lil-416286
ABSTRACT
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.
Texto completo:
DisponíveL
Índice:
LILACS (Américas)
Assunto principal:
Síndrome de Beckwith-Wiedemann
/
Impressão Genômica
/
Metilação de DNA
/
Dissomia Uniparental
Limite:
Feminino
/
Humanos
/
Masculino
Idioma:
Inglês
Revista:
Genet. mol. biol
Assunto da revista:
Genética
Ano de publicação:
2005
Tipo de documento:
Artigo
País de afiliação:
Brasil
Instituição/País de afiliação:
Universidade de São Paulo/BR
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