ESPE Abstracts

Recently, pathogenic biallelic variants in the gene encoding DNA polymerase epsilon catalytic subunit 1 (POLE1), have been described in 15 individuals from 12 families, including members of 3 Irish families. These loss-of-function mutations cause POLε deficiency, thus impairing DNA replication. All reported cases share the same heterozygous intronic variant (c.1686þ32C>G) as part of a common haplotype, in addition to a different loss-of-function variant in the ot...