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.
Highlights
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder of complex and heterogeneous etiology involving alterations in genomic imprinting
It has been suggested that isolated hemihyperplasia (IHH) represent partial or incomplete expression of BWS because both these conditions produce a predisposition for the same types of neoplasias (SoteloAvila et al, 1980)
Alteration of the H19DMR methylation pattern has been associated with loss of imprinting. of the IGF2 gene (Bell and Felsenfeld 2000), while abnormal methylation of KvDMR has been associated with loss of imprinting of the LIT1 and CDKN1C genes (Diaz-Meyer et al, 2003)
Summary
Beckwith-Wiedemann syndrome (BWS) is a congenital overgrowth disorder of complex and heterogeneous etiology involving alterations in genomic imprinting. Alteration of the H19DMR methylation pattern has been associated with loss of imprinting. The etiology of IHH still remains unclear with most reported cases having been sporadic and without chromosomal rearrangements, it has been suggested that IHH represents patchy over-expression of the IGF2 gene due to defective imprinting (Hoyme et al, 1998).
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