THAIS VIRGINIA MOURA MACHADO COSTA

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LIM/03 - Laboratório de Medicina Laboratorial, Hospital das Clínicas, Faculdade de Medicina

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Autor e Coautores FMUSP-HC Normalizados: THAIS VIRGINIA MOURA MACHADO COSTA × search.filters.applied.f.dateIssued: 2014 ×

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  • article 14 Citação(ões) na Scopus
    Complex structural rearrangement features suggesting chromoanagenesis mechanism in a case of 1p36 deletion syndrome
    (2014) ZANARDO, Evelin Aline; PIAZZON, Flavia Balbo; DUTRA, Roberta Lelis; DIAS, Alexandre Torchio; MONTENEGRO, Marilia Moreira; NOVO-FILHO, Gil Monteiro; COSTA, Thais Virginia Moura Machado; NASCIMENTO, Amom Mendes; KIM, Chong Ae; KULIKOWSKI, Leslie Domenici
    Genome rearrangements are caused by the erroneous repair of DNA double-strand breaks, leading to several alterations that result in loss or gain of the structural genomic of a dosage-sensitive genes. However, the mechanisms that promote the complexity of rearrangements of congenital or developmental defects in human disease are unclear. The investigation of complex genomic abnormalities could help to elucidate the mechanisms and causes for the formation and facilitate the understanding of congenital or developmental defects in human disease. We here report one case of a patient with atypical clinical features of the 1p36 syndrome and the use of cytogenomic techniques to characterize the genomic alterations. Analysis by multiplex ligation-dependent probe amplification and array revealed a complex rearrangement in the 1p36.3 region with deletions and duplication interspaced by normal sequences. We also suggest that chromoanagenesis could be a possible mechanism involved in the repair and stabilization of this rearrangement.
  • article 24 Citação(ões) na Scopus
    Congenital Muscular Dystrophy With Dropped Head Linked to the LMNA Gene in a Brazilian Cohort
    (2014) PASQUALIN, Livia M. A.; REED, Umbertina C.; COSTA, Thais V. M. M.; QUEDAS, Elisangela; ALBUQUERQUE, Marco A. V.; RESENDE, Maria B. D.; RUTKOWSKI, Anne; CHADI, Gerson; ZANOTELI, Edmar
    BACKGROUND: Congenital muscular dystrophy is a clinically and genetically heterogeneous group of myopathies. Congenital muscular dystrophy related to lamin A/C is rare and characterized by early-onset hypotonia with axial muscle weakness typically presenting with a loss in motor acquisitions within the first year of life and a dropped-head phenotype. METHODS: Here we report the clinical and histological characteristics of four unrelated Brazilian patients with dropped-head syndrome and mutations in the LMNA gene. RESULTS: All patients had previously described mutations (p.E358K, p.R249W, and p.N39S) and showed pronounced cervical muscle weakness, elevation of serum creatine kinase, dystrophic pattern on muscle biopsy, and respiratory insufficiency requiring ventilatory support. Three of the patients manifested cardiac arrhythmias, and one demonstrated a neuropathic pattern on nerve conduction study. CONCLUSION: Although lamin A/C related congenital muscular dystrophy is a clinically distinct and recognizable phenotype, genotype/phenotype correlation, ability to anticipate onset of respiratory and cardiac involvement, and need for nutritional support remain difficult.