Ana Rita Gonçalves
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Featured researches published by Ana Rita Gonçalves.
Journal of Human Genetics | 2015
Jorge Oliveira; Luís Negrão; Isabel Fineza; Ricardo Taipa; Manuel Melo-Pires; Ana Maria Fortuna; Ana Rita Gonçalves; Hugo Froufe; Conceição Egas; Rosário Santos; Mário Sousa
Muscular dystrophies (MDs) are a group of hereditary muscle disorders that include two particularly heterogeneous subgroups: limb-girdle MD and congenital MD, linked to 52 different genes (seven common to both subgroups). Massive parallel sequencing technology may avoid the usual stepwise gene-by-gene analysis. We report the whole-exome sequencing (WES) analysis of a patient with childhood-onset progressive MD, also presenting mental retardation and dilated cardiomyopathy. Conventional sequencing had excluded eight candidate genes. WES of the trio (patient and parents) was performed using the ion proton sequencing system. Data analysis resorted to filtering steps using the GEMINI software revealed a novel silent variant in the choline kinase beta (CHKB) gene. Inspection of sequence alignments ultimately identified the causal variant (CHKB:c.1031+3G>C). This splice site mutation was confirmed using Sanger sequencing and its effect was further evaluated with gene expression analysis. On reassessment of the muscle biopsy, typical abnormal mitochondrial oxidative changes were observed. Mutations in CHKB have been shown to cause phosphatidylcholine deficiency in myofibers, causing a rare form of CMD (only 21 patients reported). Notwithstanding interpretative difficulties that need to be overcome before the integration of WES in the diagnostic workflow, this work corroborates its utility in solving cases from highly heterogeneous groups of diseases, in which conventional diagnostic approaches fail to provide a definitive diagnosis.
Journal of Human Genetics | 2008
Jorge Oliveira; Isabel Soares-Silva; Ivo F.A.C. Fokkema; Ana Rita Gonçalves; Alexandra Cabral; Luísa Diogo; Lucía Galán; A.A. Guimarães; Isabel Fineza; Johan T. den Dunnen; Rosário Santos
AbstractWalker-Warburg syndrome, muscle-eye-brain disease, Fukuyama congenital muscular dystrophy, congenital muscular dystrophy type 1C, and congenital muscular dystrophy type 1D are overlapping clinical entities belonging to a subgroup of the congenital muscular dystrophies (CMD), collectively designated dystroglycanopathies, in which the common underlying defect is hypoglycosylation of alfa-dystroglycan. Currently, six different genes are known to be implicated in these diseases: POMT1, POMT2, POMGNT1, FCMD, FKRP, and LARGE. We report the molecular characterization of a patient presenting clinical features of CMD and reduced immunostaining for alfa-dystroglycan in muscle. Three candidate genes (FCMD, POMT1 and POMGNT1) were analyzed, and a total of 18 sequence variants were detected: 15 polymorphisms in POMT1 [including three unreported single nucleotide polymorphisms (SNPs)], two polymorphisms in FCMD, and the exonic silent mutation c.636C > T in POMGNT1. Expression analysis revealed that this apparently silent mutation compromises correct premessenger RNA (mRNA) splicing, promoting skipping of the entire exon 7, with a consequent frameshift. In silico analysis of this mutation did not predict alterations in the canonical splice sequences, but rather the creation of a new exonic splice silencer. The recognition of such disease-causing elements may contribute to the further understanding of RNA processing and assist mutation screening in routine diagnosis, where such changes may be underestimated. To aid clinical diagnosis, we generated publicly available LOVD-powered Locus Specific Databases for these three genes and recorded all known sequence variants (http://www.dmd.nl).
Neuromuscular Disorders | 2016
R. Samões; J. Oliveira; R. Taipa; Ana Rita Gonçalves; M. Cardoso; Teresa Coelho; M. Melo-Pires; Rosário Santos; M. Santos
Neuromuscular Disorders | 2016
E. Costa; A. Sousa; F. Moreno; R. Taipa; Ana Rita Gonçalves; Rosário Santos; M. Melo-Pires; M. Santos
Neuromuscular Disorders | 2016
J. Oliveira; M. Cardoso; R. Taipa; Ana Rita Gonçalves; Márcia E. Oliveira; M. Melo-Pires; M. Santos; Teresa Coelho; Rosário Santos
6ª Jornadas de Iniciação à Investigação Clínica | 2014
Jorge Oliveira; Luís Negrão; Isabel Fineza; Ana Rita Gonçalves; Hugo Froufe; Conceição Egas; Mário Sousa; Rosário Santos
Reunião da Primavera da SPDNM, 17-18 Março 2012 | 2012
I. Alves; Ricardo Taipa; Cecília Monteiro; Manuel Melo Pires; Rosário Santos; Ana Rita Gonçalves; Jorge Oliveira; António Guimarães
Reunião da Primavera da SPDNM, 17-18 Março 2012 | 2012
Cecília Monteiro; Ricardo Taipa; Manuel Melo Pires; António Guimarães; Ana Rita Gonçalves; Emília Vieira; Rosário Santos; Manuela Santos
Neuromuscular Disorders | 2011
M.R. dos Santos; Ana Rita Gonçalves; Emília Vieira; M. Santos; Isabel Fineza; Teresa Moreno; José Pedro Vieira; Elsa Bronze-da-Rocha
16th International Congress of the World Muscle Society, 18-22 Outubro 2011 | 2011
Ana Rita Gonçalves; Rosário Santos; Emília Vieira; José Pedro Vieira; Isabel Fineza; Teresa Moreno; Manuela Santos; Elsa Bronze-da-Rocha