Marfan syndrome with a complex chromosomal rearrangement including deletion of the FBN1 gene
Authors:
- Mileny Es ColovatiMCMileny Es Colovati
- Luciana Rj da SilvaLSLuciana Rj da Silva
- Sylvia S TakenoSTSylvia S Takeno
- Tatiane I ManciniTMTatiane I Mancini
- Ana R N DutraADAna R N Dutra
- Roberta S GuilhermeRGRoberta S Guilherme
- Cláudia B de MelloCMCláudia B de Mello
- Maria I MelaragnoMMMaria I Melaragno
- Ana B A PerezAPAna B A Perez
Open Access
- 19 January 2012
- journal article
- research article
- Published by Springer Nature in Molecular Cytogenetics
- Vol. 5 (1) , 5
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 wholeFBN1gene, 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 theFBN1gene 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 ofFBN1and contiguous genes. In addition to the typical clinical findings of the Marfan syndrome due toFBN1gene haploinsufficiency, the patient presents features which may be due to the other gene deletions and possibly to the complex chromosome rearrangement.Keywords
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