caa a22 4500 46793293X CHVBK 20180406152948.0 cr unu---uuuuu 170328e20061201xx s 000 0 eng 10.1007/s10545-006-0356-2 doi (NATIONALLICENCE)springer-10.1007/s10545-006-0356-2 Mutational spectrum of classical galactosaemia in Spain and Portugal [Elektronische Daten] [L. Gort, M. Boleda, L. Tyfield, L. Vilarinho, I. Rivera, M. Cardoso, M. Santos-Leite, M. Girós, P. Briones] Summary: Classical galactosaemia is an autosomal recessive inherited metabolic disorder due to deficient galactose-1-phosphate uridyltransferase (GALT). Over 180 different base changes and disease-causing mutations have been reported in the GALT gene. Mutation p.Q188R was found to be the most common molecular defect among caucasian classical galactosaemia patients. We have characterized the spectrum of GALT mutations in a group of 51 Spanish families and 32 Portuguese families with this disease. p.Q188R is also the most prevalent mutation in the Spanish and Portuguese population, accounting for 50% and 57.8% of galactosaemic alleles, respectively. An additional 15 mutations were also identified in Spanish patients, four of which were novel: p.D28H, p.S181A, c.658dupG and c.377+53_1059+87del. In the Portuguese population, 11 different mutations were found, three of which were novel: p.R33H, p.P185S, and p.S192G. The differences observed between the genotypes identified in Portuguese and Spanish galactosaemic populations are notable. Only mutations p.Q188R, p.R148Q and c.820+13g>a were identified in both populations. In spite of the geographical proximity of Spain and Portugal, it seems that they have received genetic influences from different populations. The repeated migrations that occurred in the Iberian Peninsula throughout centuries may explain such variability. SSIEM and Springer, 2006 Gort L. Institut de Bioquímica Clínica, Corporació Sanitària Clínic, Barcelona, Spain aut Boleda M. Institut de Bioquímica Clínica, Corporació Sanitària Clínic, Barcelona, Spain aut Tyfield L. Southmead Hospital, Bristol, UK aut Vilarinho L. Instituto de Genética Médica, Porto, Portugal aut Rivera I. Unidade Biología Molecular e Biopatologia Experimental, Centro Patogénese Molecular da Faculdade Farmacia UL, Lisbon, Portugal aut Cardoso M. Instituto de Genética Médica, Porto, Portugal aut Santos-Leite M. Unidade Biología Molecular e Biopatologia Experimental, Centro Patogénese Molecular da Faculdade Farmacia UL, Lisbon, Portugal aut Girós M. Institut de Bioquímica Clínica, Corporació Sanitària Clínic, Barcelona, Spain aut Briones P. Institut de Bioquímica Clínica, Corporació Sanitària Clinic and Consejo Superior de Investigaciones Científicas, Barcelona, Spain aut Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/6(2006-12-01), 739-742 0141-8955 29:6<739 2006 29 10545 https://doi.org/10.1007/s10545-006-0356-2 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s10545-006-0356-2 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Gort L. Institut de Bioquímica Clínica, Corporació Sanitària Clínic, Barcelona, Spain aut NATIONALLICENCE 700 1- Boleda M. Institut de Bioquímica Clínica, Corporació Sanitària Clínic, Barcelona, Spain aut NATIONALLICENCE 700 1- Tyfield L. Southmead Hospital, Bristol, UK aut NATIONALLICENCE 700 1- Vilarinho L. Instituto de Genética Médica, Porto, Portugal aut NATIONALLICENCE 700 1- Rivera I. Unidade Biología Molecular e Biopatologia Experimental, Centro Patogénese Molecular da Faculdade Farmacia UL, Lisbon, Portugal aut NATIONALLICENCE 700 1- Cardoso M. Instituto de Genética Médica, Porto, Portugal aut NATIONALLICENCE 700 1- Santos-Leite M. Unidade Biología Molecular e Biopatologia Experimental, Centro Patogénese Molecular da Faculdade Farmacia UL, Lisbon, Portugal aut NATIONALLICENCE 700 1- Girós M. Institut de Bioquímica Clínica, Corporació Sanitària Clínic, Barcelona, Spain aut NATIONALLICENCE 700 1- Briones P. Institut de Bioquímica Clínica, Corporació Sanitària Clinic and Consejo Superior de Investigaciones Científicas, Barcelona, Spain aut NATIONALLICENCE 773 0- Journal of Inherited Metabolic Disease Kluwer Academic Publishers 29/6(2006-12-01), 739-742 0141-8955 29:6<739 2006 29 10545 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer