title: Metachromatic leucodystrophy in Portugal-finding of four new molecular lesions: C300F, P425T, g.1190-1191insC, and g.2408delC. Mutations in brief no. 232. Online.
abstract: The mutation identification rate achieved in the study of Portuguese MLD patients was found to be extremely high (100%), thus revealing the power of the association of vertical and horizontal PCR-SSCA. The identification of new mutations adds to the large number of mutations already described to be associated to MLD. Nevertheless, mutation g.1238G>A has been found in most of the Portuguese patients, either in homozygosity or heterozygosity, suggesting this mutation to be more common in Portuguese patients than in patients with other ethnic backgrounds. Two new missense mutations (C300F and P425T) were found to be associated to late infantile and juvenile forms, respectively. Two novel microlesions (g.1190-1191insC, g.2408delC) were identified in two late infantile patients. It should be noted that both C300F and g.2408delC were detected in homozygosity. The approach used and the results here presented may provide useful information for the study of other MLD patients, as well as new insights about the effect of mutations, such as C300F, in the structure/function of ARSA.
authors.affiliation: Department of Enzymology, Instituto de Genética Médica Jacinto de Magalhães, Oporto, Portugal.
authors.forename: A
authors.initials: A
authors.lastname: Marcão
authors.forename: O
authors.initials: O
authors.lastname: Amaral
authors.forename: E
authors.initials: E
authors.lastname: Pinto
authors.forename: R
authors.initials: R
authors.lastname: Pinto
authors.forename: M C
authors.initials: MC
authors.lastname: Sá Miranda
mesh_terms: D017353:Gene Deletion; D006801:Humans; D007966:Leukodystrophy, Metachromatic / Q000235:genetics*; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011174:Portugal