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

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

Author Colovati, Mileny E. S. Autor UNIFESP Google Scholar
Silva, Luciana R. J. da Autor UNIFESP Google Scholar
Takeno, Sylvia S. Autor UNIFESP Google Scholar
Mancini, Tatiane I. Autor UNIFESP Google Scholar
Dutra, Ana R. N. Autor UNIFESP Google Scholar
Guilherme, Roberta S. Autor UNIFESP Google Scholar
Mello, Claudia B. de Autor UNIFESP Google Scholar
Melaragno, Maria I. Autor UNIFESP Google Scholar
Perez, Ana B. A. Autor UNIFESP Google Scholar
Institution Universidade Federal de São Paulo (UNIFESP)
Abstract 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.
Keywords FBN1
Marfan syndrome
Complex Chromosomal Rearrangement
Language English
Sponsor Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)
Grant number FAPESP: 09/54261-4
Date 2012-01-19
Published in Molecular Cytogenetics. London: Biomed Central Ltd, v. 5, 5 p., 2012.
ISSN 1755-8166 (Sherpa/Romeo, impact factor)
Publisher Biomed Central Ltd
Extent 5
Origin http://dx.doi.org/10.1186/1755-8166-5-5
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000309178000002
URI http://repositorio.unifesp.br/handle/11600/34533

Show full item record




File

Name: WOS000309178000002.pdf
Size: 8.270Mb
Format: PDF
Description:
Open file

This item appears in the following Collection(s)

Search


Browse

Statistics

My Account