Inversion of the IDS gene resulting from recombination with IDS-related sequences in a common cause of the Hunter syndrome

Publisher Website
Google Scholar
Abstract
We have recently described the identification of a second IDS locus (IDS-s) located within 90 kb telomeric of the IDS gene (Bondeson et al. submitted). here, we show that this region is involved in a recombination with the IDS gene in about 13% of patients with the Hunter syndrome. Analysis of the resulting aearrangement at the molecular level should that these patients have suffered a recombination event that results in a disruption of the IDS gene is intron 7 with an inversion of the intervening DNA. Inerestingly, all of the six cases with a similar type of rearrangement showed recombination between intron 7 of the IDS gene and sequences close to exon 3 at the IDS-2 locus implying that these regions are hot spots for recombination. Analysis by uncleotide sequencing should that the inversion is caused by recombination between homologous sequences present in the IDS gene and the IDS-2 locus. No detectable deletions or insertions were observed as a result of the recombination event. The results in this study have practical implications for diagnosis of the Hunter syndrome.

This publication has 0 references indexed in Scilit: