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Silver-Russell syndrome (SRS) is a growth retardation syndrome in which loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy for chromosome 7 [UPD(7)mat] explain 20–60% and 10% of the syndrome, respectively. To search for a molecular cause for the remaining SRS cases, and to find a possible common epigenetic change, we studied DNA methylation pattern of more than 450 000 CpG sites in 44 SRS patients. Common to all three SRS subgroups, we found a hypomethylated region at the promoter region of  HOXA4  in 55% of the patients. We then tested 39 patients with severe growth restriction of unknown etiology, and found hypomethylation of  HOXA4  in 44% of the patients. Finally, we found that methylation at multiple CpG sites in the  HOXA4  promoter region was associated with height in a cohort of 227 healthy children, suggesting that  HOXA4  may play a role in regulating human growth by epigenetic mechanisms.

Hypomethylation of HOXA4 promoter is common in Silver-Russell syndrome and growth restriction and associates with stature in healthy children