Published in:
01-09-2013 | Letter to the Editors
Important aspects in the molecular diagnosis of mucopolysaccharidoses
Authors:
Ana Carolina Brusius-Facchin, Francyne Kubaski, Roberto Giugliani, Sandra Leistner-Segal
Published in:
Journal of Inherited Metabolic Disease
|
Issue 5/2013
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Excerpt
Recently, Pollard et al (
2012) reported the molecular characterization of 355 patients with mucopolysaccharidoses, in whom 104 novel mutations were found. We read this article with great interest and would like to share some insights and concerns regarding these results, which we think relevant as the authors propose that genetic diagnosis should be performed before or even without biochemical diagnosis. Enzyme diagnosis is presently considered the "gold standard" approach (Neufeld and Muenzer
2001), usually followed by genetic diagnosis mainly to help the understanding of the genotype-phenotype correlation, to detect carriers, to improve prenatal diagnosis and to confirm biochemical diagnosis in the few doubtful cases. …
