Are H19 variants associated with Silver-Russell syndrome?
Opposite (epi)mutations affecting the imprinted region 11p15 are associated with Silver-Russell (SRS) and Beckwith-Wiedemann syndrome (BWS). Apart from other disturbances more than 35% of patients with SRS show hypomethylation at the imprinting control region 1 (ICR1) in 11p15. ICR1 is paternally methylated and regulates the expression of the paternally expressed growth factor IGF2 and the maternally expressed gene H19. The exact function of the non-coding RNA H19 is still unknown. However, the finding that this gene is highly conserved in mammals indicates profound functional relevance. Due to the supposed function of H19 in the regulation of the imprinted region 11p15 we searched for mutations in the transcribed sequence and the CTCF binding sites of H19 in 44 patients with SRS. In two cases different 3 base-pair (bp) deletions in exon 1 could be identified. A third patient carried a 39 bp duplication affecting exon 2 and intron 2. These three variants were not detected in 100 contro
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