Complex Transposon Insertion as a Novel Cause of Pompe Disease

Abstract

Pompe disease (OMIM#232300) is an autosomal recessive lysosomal storage disorder caused by mutations in the <i>GAA</i> gene. According to public mutation databases, more than 679 pathogenic variants have been described in <i>GAA</i>, none of which are associated with mobile genetic elements. In this article, we report a novel molecular genetic cause of Pompe disease, which could be hardly detected using routine molecular genetic analysis. Whole genome sequencing followed by comprehensive functional analysis allowed us to discover and characterize a complex mobile genetic element insertion deep in the intron 15 of the <i>GAA</i> gene in a patient with infantile onset Pompe disease.