Mosaic upd(7)mat in a patient with Silver-Russell syndrome.

摘要

Silver-Russell syndrome (SRS) is a congenital developmental disorder characterized by pre- and post-natal growth failure, relative macrocephaly, triangular face, hemihypotrophy, and 5th finger clinodactyly [Russell, 1954; Silver et al., 1953]. Recent studies have shown that hypomethylation (epimutation) of the paternally derived differentially methylated region (DMR) in the upstream of H19 (H19-DMR) on chromosome 1 Ipl5 and maternal uniparental disomy for chromosome 7 (upd(7)mat) account for ~45% and ~5-10% of SRS patients, respectively [Eggermann, 2010; Binder et al., 2011]. Furthermore, consistent with the involvement of imprinted genes in both body and placental growth [for review, Coan et al., 2005], epimutations of the H19-DMR and upd(7)mat are known to result in placental hypoplasia [Yamazawa et al., 2008a,b]. Here, we report on a Japanese boy with mosaic upd(7)mat who was identified through genetic screenings in 120 patients with SRS-like phenotype.