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- Genes, crianças e pediatras: distrofia miotónicaPublication . Dias, C.; Santos, M.; Vilarinho, M.; Santos, R.; Fortuna, A.; Lima, M.
- Genes, Crianças e Pediatras IVPublication . Soares, G.; Pimentel, I.; Dias, C.; Pinto-Basto, J.; Martins, M.; Fortuna, A.; Reis-Lima, M.
- Genes, Crianças e Pediatras 2005 IIPublication . Dias, C.; Martins, M.; Rocha, M.; Soares, G.; Pinto-Basto, J.; Gonçalves, S.; Carrilho, I.; Fortuna, A.; Reis-Lima, M.
- Usher syndrome and Nebulin‐associated myopathy in a single patient due to variants in MYO7A and NEBPublication . Maia, N; Soares, Ana Rita; Fortuna, Ana; Marques, Isabel; Gonçalves, Ana; Santos, Rosário; Pires, Manuel; De Brouwer, Arjan; Jorge, PaulaIn a patient with Usher syndrome and atypical muscle complaints, we have identified two separate variants in MYO7A andNEB genes by exome sequencing. The homozygous variants in these two recessive genes could explain the full phenotype of our patient.
- Desenvolvimento neurocognitivo em 99 adolescentes e adultos com fenilcetonúria: ganhos em saúde resultantes de uma abordagem multidisciplinarPublication . Carmona, C.M.; Almeida, M.F.; Rocha, J.C.; Soares, G.; Fortuna, A.
- Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approachPublication . Marques, I.; Sá, J.; Soares, G.; Mota, M.; Pinheiro, C.; Aguiar, L.; Amado, M.; Soares, C.; Calado, A.; Dias, P.; Sousa, A.; Fortuna, A.; Santos, R.; Howell, K.; Ryan, M.; Leventer, R.; Sachdev, R.; Catford, R.; Friend, K; Mattiske, T.; Shoubridge, C.; Jorge, P.The Aristaless-related homeobox (ARX) gene is implicated in intellectual disability with the most frequent pathogenic mutations leading to expansions of the first two polyalanine tracts. Here, we describe analysis of the ARX gene outlining the approaches in the Australian and Portuguese setting, using an integrated clinical and molecular strategy. We report variants in the ARX gene detected in 19 patients belonging to 17 families. Seven pathogenic variants, being expansion mutations in both polyalanine tract 1 and tract 2, were identifyed, including a novel mutation in polyalanine tract 1 that expands the first tract to 20 alanines. This precise number of alanines is sufficient to cause pathogenicity when expanded in polyalanine tract 2. Five cases presented a probably non-pathogenic variant, including the novel HGVS: c.441_455del, classified as unlikely disease causing, consistent with reports that suggest that in frame deletions in polyalanine stretches of ARX rarely cause intellectual disability. In addition, we identified five cases with a variant of unclear pathogenic significance. Owing to the inconsistent ARX variants description, publications were reviewed and ARX variant classifications were standardized and detailed unambiguously according to recommendations of the Human Genome Variation Society. In the absence of a pathognomonic clinical feature, we propose that molecular analysis of the ARX gene should be included in routine diagnostic practice in individuals with either nonsyndromic or syndromic intellectual disability. A definitive diagnosis of ARX-related disorders is crucial for an adequate clinical follow-up and accurate genetic counseling of at-risk family members.
- Diagnóstico e benefícios para a comunidade na doença genética: contributo da citogenéticaPublication . Oliva-Teles, N.; Freitas, M.; Lopes, E.; Aguiar, J.; Marques, B.; Fortuna, A.; Silva, M.
- Genes, Crianças e Pediatras IIIPublication . Dias, C.; Soares, G.; Pinto-Basto, J.; Fortuna, A.; Martins, M.; Reis-Lima, M.; Fonseca, F.
- T cell numbers relate to bone involvement in Gaucher diseasePublication . LACERDA, L.; AROSA, F.A.; LACERDA, R.; CABEDA, J.; PORTO, G.; AMARAL, O.; Fortuna, A.; PINTO, R.; OLIVEIRA, P.; MCLAREN, C.E.; SA MIRANDA, C.; DE SOUSA, M.Blood Cells Mol Dis. 1999 Apr;25(2):130-8. T cell numbers relate to bone involvement in Gaucher disease. Lacerda L, Arosa FA, Lacerda R, Cabeda J, Porto G, Amaral O, Fortuna A, Pinto R, Oliveira P, McLaren CE, Sá Miranda C, de Sousa M. Department of Genetics Neurobiology, Porto University, Portugal. Abstract The major elements of bone pathology in Gaucher disease are a failure of osteoclast and osteoblast function, resulting in osteopenia and also osteonecrosis. T lymphocytes have recently been found to be involved in the regulation of osteoblast/osteoclast activity in vitro. In the present report the peripheral blood T major lymphocyte subsets were investigated in a group of genotyped type 1 Gaucher disease patients. A total of 31 patients were studied: 21 non-splenectomized (5 N370S homozygotes) and 10 splenectomized (of whom 1 was a N370S homozygote). The results show that non-splenectomized patients present a decrease in absolute numbers of peripheral blood T lymphocytes, specially the CD4+ T subset. However, when patients were analyzed with respect to the presence of bone disease, the number of CD8+ T lymphocytes was found to be statistically significantly lower in patients presenting bone involvement. Furthermore, lower numbers of CD8+ T lymphocytes were significantly correlated with higher levels of plasma tartrate resistant acid phosphatase (TRAP) activity, a putative marker of osteoclast cell activity. These in vivo findings are in agreement with the results reached in vitro by others. They provide an additional marker of disease severity in Gaucher disease. In the group of genotyped Gaucher disease patients, the majority of the N370S homozygous patients presented a clinically milder phenotype, including the absence of bone involvement, confirming earlier reports predicting that a number of these patients may remain undiagnosed. Collectively the homozygosity for the N370S mutation and normal T cell numbers may provide additional markers for the clinical heterogeneity of Gaucher disease. PMID: 10389595 [PubMed - indexed for MEDLINE
- Arx-related disorders: several distinct phenotypes, one mutated genePublication . Sá, M.J.; Soares, G.; Silva, J.; Fortuna, A.; Santos, R.; Marques, I.; Jorge, P.