Abstract
Glycogen storage disease type II (GSD II) is an autosomal recessive inherited disorder due to the deficiency of the enzyme acid α-glucosidase, which causes an accumulation of glycogen in lysosomes. The deletion of exon 18 (Δ18) is a frequent mutation associated with a severe phenotype. We analyzed 25 Italian patients, 5 of whom were found to be Δ18 carriers. All these 5 patients came from Catania, a town in Sicily. We report on the analysis of 5 intragenic single-point polymorphic markers in the Δ18 patients and on the subsequent characterization of a Δ18-associated haplotype. The frequency of this haplotype in GSD II patients and normal individuals was 1 and 0.196, respectively (χ<sup>2</sup> = 20.9; p < 0.001). The high frequency of the Δ18 allele in this Italian subpopulation is likely to be due to a founder effect.
Published Version
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