title: Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient.
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.
authors.affiliation: Diagnosi Pre-Postnatale Malattie Metaboliche Laboratory-IRCCS G. Gaslini, Genova, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Regis
authors.forename: Susanna
authors.initials: S
authors.lastname: Lualdi
authors.forename: Alessandra
authors.initials: A
authors.lastname: Biffi
authors.forename: Maria
authors.initials: M
authors.lastname: Sessa
authors.forename: Fabio
authors.initials: F
authors.lastname: Corsolini
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Parenti
authors.forename: Mirella
authors.initials: M
authors.lastname: Filocamo
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D002553:Cerebroside-Sulfatase / Q000032:analysis* / Q000235:genetics*; D002648:Child; D004252:DNA Mutational Analysis; D017809:Fatal Outcome; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000175:diagnosis*; D008297:Male; D008969:Molecular Sequence Data; D011995:Recombination, Genetic
chemical_list: D002553:Cerebroside-Sulfatase