Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient.
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.
Regis
Stefano
S
Diagnosi Pre-Postnatale Malattie Metaboliche Laboratory-IRCCS G. Gaslini, Genova, Italy.
Lualdi
Susanna
S
Biffi
Alessandra
A
Sessa
Maria
M
Corsolini
Fabio
F
Parenti
Giancarlo
G
Filocamo
Mirella
M
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
D002553:Cerebroside-Sulfatase