First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica

Abstract

Glycogen storage disease type II, also known as Pompe disease, is an autosomal recessive disorder caused by deficiency of enzymatic activity of acid alpha-glucosidase. The wide phenotypical variation of this disease relates to the amount of residual enzymatic activity depending on the combination of mutations on each allele. We confirmed Pompe disease in a patient that presented with progressive weaknes s, recurrent episodes of respiratory failure associated with pneumonia, a predominantly demyelinating mixed sensorimotor polyneuropathy and paraspinal complex repetitive discharges. Genetic analysis of the GAA gene from this patient revealed two pathogenic compound heterozygous mutations: c.-32-13T>G (rs386834236, intronic), c.2560C>T (rs121907943, p.Arg854Ter); and one variant of unknown significance: c.1551+42G>A (rs115427918, intronic).We found expected mutations in two siblings and two nieces. Genetic variants reported in this family reflect on the European and African ancestry that we carry in our Costa Rican population