ABSTRACT
Fanconi anaemia (FA) is a recessive autosomal disease determined by mutations in genes of at least eleven complementation groups, with distinct distributions in different populations. As far as we know, there are no reports regarding the molecular characterisation of the disease in unselected FA patients in Brazil. OBECTIVE: This study aimed to investigate the most prevalent mutations of FANCA and FANCC genes in Brazilian patients with FA. METHODS: Genomic DNA obtained from 22 racially and ethnically diverse unrelated FA patients (mean age ± SD: 14.0 ± 7.8 years; 10 male, 12 female; 14 white, 8 black) was analysed by polymerase chain reaction and restriction site assays for identification of FANCA (delta3788-3790) and FANCC (delta322G, IVS4+4A -> T, W22X, L496R, R548X, Q13X, R185X, and L554P) gene mutations. RESULTS: Mutations in FANCA and FANCC genes were identified in 6 (27.3 percent) and 14 (63.6 percent) out of 22 patients, respectively. The disease could not be attributed to the tested mutations in the two remaining patients enrolled in the study (9.1 percent). The registry of the two most prevalent gene abnormalities (delta3788-3790 and IVS4 + 4 -> T) revealed that they were present in 18.2 percent and 15.9 percent of the FA alleles, respectively. Additional FANCC gene mutations were found in the study, with the following prevalence: delta322G (11.4 percent), W22X (9.1 percent), Q13X (2.3 percent), L554P (2.3 percent), and R548X (2.3 percent) of total FA alleles. CONCLUSION: These results suggest that mutations of FANCA and FANCC genes are the most prevalent mutations among FA patients in Brazil.
Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Molecular Diagnostic Techniques , Fanconi Anemia Complementation Group A Protein , Fanconi Anemia Complementation Group C Protein , Fanconi AnemiaABSTRACT
Os autores estudam retrospectivamente 2165 necrópsias realizadas pelo serviço de Anatomopatologia do Hospital Universitário da UFJF, no período de agosto de 1971 a agosto de 1991. 433 (20 por cento) apresentaram neoplasias malignas e destas, 30 (6,93 por cento) tinham comprometimento cardíaco por metástases, independente do acometimento de outros órgäos. Houve predominância do sexo masculino na faixa etária inferior a 45 anos. A raça de maior prevalência foi a branca, nos 30 casos com metástases cardíacas. Foi realizada ainda, uma revisäo bibliográfica do tema proposto. Conclui-se que há necessidade de realizaçäo de um diagnóstico mais precoce através de exames complementares específicos, para tentar evitar as manifestaçöes cardíacas clínicas do comprometimento metastático cardíaco, oferecendo ao paciente uma melhor qualidade de vida e prognóstico mais favorável.
Subject(s)
Humans , Male , Female , Adult , Cardiomyopathies/pathology , Neoplasm Metastasis/pathology , Pericardium/pathology , Autopsy , Retrospective StudiesABSTRACT
Apresentaçäo de um caso de regurgitaçäo congênita da válvula pulmonar onde será discutido os aspectos do seu diagnóstico e conduta terapêutica.