Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient |
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Authors: | Regis Stefano Lualdi Susanna Biffi Alessandra Sessa Maria Corsolini Fabio Parenti Giancarlo Filocamo Mirella |
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Affiliation: | Diagnosi Pre-Postnatale Malattie Metaboliche Laboratory-IRCCS G. Gaslini, Genova, Italy. |
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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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