Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
2000303 | Molecular Genetics and Metabolism | 2006 | 6 Pages |
Abstract
A metachromatic leukodystrophy (MLD) patient was found to carry two additional arylsulfatase A (ARSA) alleles besides the two inherited. The additional alleles arose from an event of mitotic intragenic recombination between the inherited alleles, thus leading to a case of somatic mosaicism. As suggested by in vitro expression, the recombination was ineffective in generating a significantly advantaged ARSA allele compared to the inherited alleles. Although the phenotype in this patient was not modified by the recombination, similar events could potentially yield significant clinical benefits.
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Authors
Stefano Regis, Susanna Lualdi, Alessandra Biffi, Maria Sessa, Fabio Corsolini, Giancarlo Parenti, Mirella Filocamo,