A review of the literature revealed 115 cases of infantile (42) or late-onset (73) Pompe disease. Genetic analysis of associated GAA variants showed that :
- the presence of at least one splice variant was found in 96.6% of cases in late-onset forms ;
- in 71.4% of cases in infantile forms, there was no splice variant;
- variants in intron 1 and in the proximal beta leaflet were only associated with late forms;
- the other variant locations were associated with both late-onset and infantile forms.
These genotype-phenotype correlations are helping to improve neonatal, prenatal and pre-implantation diagnosis, as well as the management of children and support for future parents.
