Recurrent small deletions in KCNQ1OT1: a challenge for pathogenicity prediction

In the articles linked to this commentary and also published by the Journal of Medical Genetics, two groups independently report on the same small deletion in 11p15.5 which affects the imprinting centre 2 (IC2).1 2 With another recently published patient,3 now three families with the same rare molecular deletion of 132 bp in the IC2 are documented. In two families, the growth retardation phenotype segregates with the paternal origin of the affected allele and fits with the imprinting status of the region, but the description of a healthy carrier of the 132 bp deletion in the paternal IC2 copy by Stoltze2 shows that this conclusion has to be regarded with caution. Thus, the three cases confirm the complexity of CNVs affecting the imprinting centres in 11p15.5 and indicate that further, so far, unknown factors contribute to the clinical outcome of carriers of 11p15.5...

Source: Journal of Medical Genetics - January 24, 2023 Category: Genetics & Stem Cells Authors: Eggermann, T. Tags: Epigenetics Source Type: research