1. First clinical and genetic description of a family diagnosed with late-onset Pompe disease from Costa Rica.
- Author
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Torrealba-Acosta, Gabriel, Rodríguez-Roblero, María Consuelo, Bogantes-Ledezma, Sixto, Carazo-Céspedes, Kenneth, and Desnuelle, Claude
- Subjects
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GLYCOGEN storage disease type II , *GENETIC testing , *GENETIC mutation , *HUMAN genetic variation , *DIAGNOSIS - 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 weakness, 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. [ABSTRACT FROM AUTHOR]
- Published
- 2017
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