Genotype-phenotype relationship in mucopolysaccharidosis II: predictive power of IDS variants for the neuronopathic phenotype.
Audrey A M VollebregtMarianne Hoogeveen-WesterveldMarian A KroosEsmee OussorenIris PlugGeorge J RuijterAns T van der PloegW W M Pim PijnappelPublished in: Developmental medicine and child neurology (2017)
We speculate that very low or cell-type-specific IDS residual activity is sufficient to prevent the neuronal phenotype of MPS II. Whereas the molecular effects of IDS variants do not distinguish between MPS II phenotypes, the IDS genotype is a strong predictor.