Genotype and Phenotype Characterization of Patients with Mucopolysaccharidosis IV-A in Chile

Conclusion: This is the first time that a genotype-phenotype correlation has been studied by analyzing the variants effect on the molecular structure of human GalN6S and the evolutionary conservation degree of affected residues in a cohort of patients in Chile. Albeit our work could not find statistically significant associations, we may infer that the evolutionary conservations of affected amino acids and the effect of variants on enzyme structure may play a main role. Further analyzes should consider a meta-analysis of published cases with genotype data and larger samples and include other variables that could provide more information. Finally, our data strongly suggest that variant c.319+2Tgt;C could have a founder effect in Chilean patients with MPS IV-A.Mol Syndromol
Source: Molecular Syndromology - Category: Molecular Biology Source Type: research