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.
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient / Regis, S; Lualdi, S; Biffi, A; Sessa, M; Corsolini, F; Parenti, Giancarlo; Filocamo, M.. - In: MOLECULAR GENETICS AND METABOLISM. - ISSN 1096-7192. - STAMPA. - 89:(2006), pp. 150-155.
Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient
PARENTI, GIANCARLO;
2006
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
