Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient

Mol Genet Metab. 2006 Sep-Oct;89(1-2):150-5. doi: 10.1016/j.ymgme.2006.03.016. Epub 2006 Jun 19.

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.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Amino Acid Sequence
  • Cerebroside-Sulfatase / analysis*
  • Cerebroside-Sulfatase / genetics*
  • Child
  • DNA Mutational Analysis
  • Fatal Outcome
  • Humans
  • Leukodystrophy, Metachromatic / diagnosis*
  • Male
  • Molecular Sequence Data
  • Recombination, Genetic*

Substances

  • Cerebroside-Sulfatase

Associated data

  • RefSeq/NM_000487