Paternal deletion of the KCNQ1OT1 ICR results in defective imprinting and recurrent severe Intra-Uterine Growth Restriction

Intra-Uterine Growth Restriction (IUGR) is commonly associated with perinatal morbidity and mortality. Causes are heterogeneous and can be genetic or environmental. The study by De Crescenzo et al. describes a case in which two fetuses conceived by the same couple died in utero with severe growth restriction. The underlying  genetic defect consisted of a 60 kb deletion which removes the control region of an imprinted gene cluster at chromosome 11p15.5. This resulted in activation of genes with growth-inhibitory functions, such as CDKN1C and PHLDA2.  This case highlights the complexity of phenotypes associated with the 11p15.5 imprinted genes, which includes Silver-Russell and Beckwith-Wiedemann syndromes. (By Dr. Andrea Riccio, http://jmg.bmj.com/content/early/2012/12/13/jmedgenet-2012-101352 )