Reevaluating the pathogenicity of the mutation c.1194 +5 G>A in GAA gene by functional analysis of RNA

Pompe disease or glycogen storage disease type II, (OMIM: 232300), is an autosomal recessive inherited disorder caused by mutations in GAA gene. It is located in the long arm of chromosome 17 (Chromosome 17: 80,101,556-80,119,879 forward strand (GRCh38:CM000679.2)) and includes 20 exons [1]. GAA encodes the lysosomal acid alpha glucosidase (acid maltase; EC. 3.2.10.20), the enzyme responsible of the intra-lysosomal glycogen hydrolysis. GAA deficiency results in progressive accumulation of glycogen in the lysosomes.

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