Browsing by Author "Lopes, A."
Now showing 1 - 5 of 5
Results Per Page
Sort Options
- Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.Publication . Barbosa, M.; Lopes, A.; Mota, C.; Martins, E.; Oliveira, J.; Alves, S.; De Bonis, P.; Mota, M. do C.; Dias, Carlos Matias; Rodrigues-Santos, P.; Fortuna, A.M.; Quelhas, D.; Lacerda, L.; Bisceglia, L.; Cardoso, M.L.Cystinuria is a rare autosomal inherited disorder characterized by impaired transport of cystine and dibasic aminoacids in the proximal renal tubule. Classically, Cystinuria is classified as type I (silent heterozygotes) and non-type I (heterozygotes with urinary hyperexcretion of cystine). Molecularly, Cystinuria is classified as type A (mutations on SLC3A1 gene) and type B (mutations on SLC7A9 gene). The goal of this study is to provide a comprehensive clinical, biochemical and molecular characterization of a cohort of 12 Portuguese patients affected with Cystinuria in order to provide insight into genotype–phenotype correlations. We describe seven type I and five non-type I patients. Regarding the molecular classification, seven patients were type A and five were type B. In SLC3A1 gene, two large genomic rearrangements and 13 sequence variants, including four new variants c.611-2A>C; c.1136+44G>A; c.1597T (p.Y533N); c.*70A>G, were found. One large genomic rearrangement was found in SLC7A9 gene as well as 24 sequence variants including 3 novel variants: c.216C>T (p.C72C), c.1119G>A (p.S373S) and c.*82C>T. In our cohort the most frequent pathogenic mutations were: large rearrangements (33.3% of mutant alleles) and a missense mutation c.1400T>C ( p.M467T) (11.1%). This report expands the spectrum of SLC3A1 and SLC7A9 mutations and provides guidance in the clinical implementation of molecular assays in routine genetic counseling of Portuguese patients affected with Cystinuria.
- Deficiencia de glicerolcinasa: una causa metabólica de retraso global del desarrolloPublication . Ribeiro, A.I.; Pinto, S.; Ayres-Pereira, I.; Vieira, A.; Valongo, C.; Passas, A.; Lopes, A.; Santos, H.La deficiencia de glicerolcinasa (GKD) es un raro trastorno recesivo ligado al X, caracterizado por la pérdida de la función del enzima glicerolcinasa (GK), que cataliza la fosforilación dietética del glicerol a glicerol-3-fosfato, necesario en la síntesis de lípidos y en la gluconeogénesis [1,2]. La pérdida de actividad enzimática conduce a una acumulación de glicerol en suero (hiperglicerolemia) y orina (gliceroluria). (...)
- Develop methodology for quality evaluation data from national FCDBs – Task 1.2, update D1.2Publication . Costa, H.S.; Dias, M.G.; Albuquerque, T.G.; Ravasco, F.; Lopes, A.; Finglas, P.; Roe, M.; Milesević, J.; Kadvan, A.; Westenbrink, S.About TASK 1.2 - To develop an approach to evaluate quality of national FCDBs.
- LPIN1 deficiency: A novel mutation associated with different phenotypes in the same familyPublication . Nunes, D.; Nogueira, C.; Lopes, A.; Chaves, P.; Rodrigues, E.; Cardoso, T.; Leão Teles, E.; Vilarinho, L.Rhabdomyolysis (RM) is characterized by acute and often severe skeletal muscle damage resulting in myoglobinuria and, in severe cases, acute renal failure. In adults is typically due to trauma, intoxication or infection, whereas in children is frequently associated with inherited muscle disorders. LPIN1 mutations were identified as a cause of severe recurrent RM, which usually begin in childhood, and infections are the most frequent trigger.
- Retrospective study of the medium-chain acyl-CoA dehydrogenase deficiency in PortugalPublication . Ventura, F.V.; Leandro, P.; Luz, A.; Rivera, I.A.; Silva, M.F.; Ramos, R.; Rocha, H.; Lopes, A.; Fonseca, H.; Gaspar, A.; Diogo, L.; Martins, E.; Leão-Teles, E.; Vilarinho, L.; Tavares de Almeida, I.Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the commonest genetic defect of mitochondrial fatty acid β-oxidation. About 60% of MCADD patients are homozygous for the c.985A>G (p.Lys329Glu) mutation in the ACADM gene (G985 allele). Herein, we present the first report on the molecular and biochemical spectrum of Portuguese MCADD population. From the 109 patients studied, 83 were diagnosed after inclusion of MCADD in the national newborn screening, 8 following the onset of symptoms and 18 through segregation studies. Gypsy ancestry was identified in 85/109 patients. The G985 allele was found in homozygosity in 102/109 patients, in compound heterozygosity in 6/109 and was absent in one patient. Segregation studies in the Gypsy families showed that 93/123 relatives were carriers of the G985 allele, suggesting its high prevalence in this ethnic group. Additionally, three new substitutions-c.218A>G (p.Tyr73Cys), c.503A>T (p.Asp168Val) and c.1205G>T (p.Gly402Val)-were identified. Despite the particularity of the MCADD population investigated, the G985 allele was found in linkage disequilibrium with H1(112) haplotype. Furthermore, two novel haplotypes, H5(212) and H6(122) were revealed.