Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene

Autor(es)

Colovati, Mileny E. S. ^[1] ; da Silva, Luciana R. J. ^[1] ; Takeno, Sylvia S. ^[1] ; Mancini, Tatiane I. ^[1] ; Dutra, Ana R. N. ^[1] ; Guilherme, Roberta S. ^[1] ; de Mello, Claudia B. ^[2] ; Melaragno, Maria I. ^[1] ; Perez, Ana B. A. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Fed Sao Paulo, Dept Morfol & Genet, Sao Paulo - Brazil

^[2] Univ Fed Sao Paulo, Ctr Paulista Neuropsicol, Dept Psicobiol, Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: MOLECULAR CYTOGENETICS; v. 5, JAN 19 2012.
• Citações Web of Science: 8

Resumo

Background: The majority of Marfan syndrome (MFS) cases is caused by mutations in the fibrillin-1 gene (FBN1), mapped to chromosome 15q21.1. Only few reports on deletions including the whole FBN1 gene, detected by molecular cytogenetic techniques, were found in literature. Results: We report here on a female patient with clinical symptoms of the MFS spectrum plus craniostenosis, hypothyroidism and intellectual deficiency who presents a 1.9 Mb deletion, including the FBN1 gene and a complex rearrangement with eight breakpoints involving chromosomes 6, 12 and 15. Discussion: This is the first report of MFS with a complex chromosome rearrangement involving a deletion of FBN1 and contiguous genes. In addition to the typical clinical findings of the Marfan syndrome due to FBN1 gene haploinsufficiency, the patient presents features which may be due to the other gene deletions and possibly to the complex chromosome rearrangement. (AU)

• Processo FAPESP: 09/54261-4 - Investigação clínica, citogenética e molecular em uma paciente com Síndrome de Marfan portadora de uma translocação complexa com perda de segmentos genômicos
• Beneficiário: Maria Isabel de Souza Aranha Melaragno
• Modalidade de apoio: Auxílio à Pesquisa - Regular