Publication
Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries
| dc.contributor.author | Lugowska, A. | |
| dc.contributor.author | Amaral, O. | |
| dc.contributor.author | Berger, J. | |
| dc.contributor.author | Berna, L. | |
| dc.contributor.author | Bosshard, N. | |
| dc.contributor.author | Chabas, A. | |
| dc.contributor.author | Fensom, A. | |
| dc.contributor.author | Gieselmann, V. | |
| dc.contributor.author | Gorovenko, N. | |
| dc.contributor.author | Lissens, W. | |
| dc.contributor.author | Mansson, J. | |
| dc.contributor.author | Marcao, A. | |
| dc.contributor.author | Michelakakis, H. | |
| dc.contributor.author | Bernheimer, H. | |
| dc.contributor.author | Ol'khovych, N. | |
| dc.contributor.author | Regis, S. | |
| dc.contributor.author | Sinke, R. | |
| dc.contributor.author | Tylki-Szymanska, A. | |
| dc.contributor.author | Czartoryska, B. | |
| dc.date.accessioned | 2011-12-14T11:12:25Z | |
| dc.date.available | 2011-12-14T11:12:25Z | |
| dc.date.issued | 2005-11 | |
| dc.description.abstract | In this multicentre study, we examined the prevalence of two mutations in the arylsulfatase A (ARSA) gene, i.e., c.459 + 1G > A and p.P426L, in 384 unrelated European patients presenting with different types of metachromatic leukodystrophy (MLD). In total, c.459 + 1G > A was found 194 times among the 768 investigated ARSA alleles (25%), whereas p.P426L was identified 143 times (18.6%). Thus, these two mutations accounted for 43.8% of investigated MLD alleles. Mutation c.459 + 1G > A was most frequent in late-infantile MLD patients (40%), while p.P426L was most frequent in adults (42.5%), which is consistent with earlier observations, although p.P426L was also found in a few late-infantile patients (0.9%), and c.459 + 1G > A was present in some adults (9%). Mutation c.459 + 1G > A is more frequent in countries situated at the western edges of Europe, i.e., in Great Britain and Portugal, and also in Belgium, Switzerland, and Italy, which is visible as a strand ranging from North to South, and additionally in Czech and Slovak Republics. Mutation p.P426L is most prevalent in countries assembled in a cluster containing the Netherlands, Germany, and Austria. In other Central European countries, the frequency of both c.459 + 1G > A and p.P426L ranges from 8 to 37.5%. Our study has confirmed that c.459 + 1G > A and p.P426L are the most frequently found MLD-causing mutations in Europe. The data about their prevalence reflect the population variability in Europe. | por |
| dc.identifier.citation | Mol Genet Metab. 2005 Nov;86(3):353-9. Epub 2005 Sep 2 | por |
| dc.identifier.issn | 1096-7192 | |
| dc.identifier.other | doi:10.1016/j.ymgme.2005.07.010 | |
| dc.identifier.uri | http://hdl.handle.net/10400.18/344 | |
| dc.language.iso | eng | por |
| dc.peerreviewed | yes | por |
| dc.publisher | Elsevier | por |
| dc.relation.publisherversion | http://www.sciencedirect.com/science/article/pii/S1096719205002234 | por |
| dc.subject | Doenças Genéticas | por |
| dc.subject | Genética humana | por |
| dc.subject | Metachromatic leukodystrophy | por |
| dc.subject | Arylsulfatase A | por |
| dc.subject | Europe | por |
| dc.subject | Mutation | por |
| dc.title | Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries | por |
| dc.type | journal article | |
| dspace.entity.type | Publication | |
| oaire.citation.endPage | 359 | por |
| oaire.citation.startPage | 353 | por |
| oaire.citation.title | Molecular Genetics and Metabolism | por |
| rcaap.rights | restrictedAccess | por |
| rcaap.type | article | por |