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Título: Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries
Autor: Lugowska, A.
Amaral, O.
Berger, J.
Berna, L.
Bosshard, N.
Chabas, A.
Fensom, A.
Gieselmann, V.
Gorovenko, N.
Lissens, W.
Mansson, J.
Marcao, A.
Michelakakis, H.
Bernheimer, H.
Ol'khovych, N.
Regis, S.
Sinke, R.
Tylki-Szymanska, A.
Czartoryska, B.
Palavras-chave: Doenças Genéticas
Genética humana
Metachromatic leukodystrophy
Arylsulfatase A
Issue Date: Nov-2005
Editora: Elsevier
Citação: Mol Genet Metab. 2005 Nov;86(3):353-9. Epub 2005 Sep 2
Resumo: 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.
Arbitragem científica: yes
ISSN: 1096-7192
Versão do Editor:
Appears in Collections:DGH - Artigos em revistas internacionais

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