Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome

Candidate gene linkage analysis indicates genetic heterogeneity in Marfan syndrome

Author Teixeira, L.v.s. Google Scholar
Mandelbaum, Karina Lezirovitz Google Scholar
Pereira, L.v. Google Scholar
Ana Beatriz Alvarez Autor UNIFESP Google Scholar
Institution Universidade de São Paulo (USP)
Universidade Federal de São Paulo (UNIFESP)
Abstract Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue that affects the ocular, skeletal and cardiovascular systems, with a wide clinical variability. Although mutations in the FBN1 gene have been recognized as the cause of the disease, more recently other loci have been associated with MFS, indicating the genetic heterogeneity of this disease. We addressed the issue of genetic heterogeneity in MFS by performing linkage analysis of the FBN1 and TGFBR2 genes in 34 families (345 subjects) who met the clinical diagnostic criteria for the disease according to Ghent. Using a total of six microsatellite markers, we found that linkage with the FBN1 gene was observed or not excluded in 70.6% (24/34) of the families, and in 1 family the MFS phenotype segregated with the TGFBR2 gene. Moreover, in 4 families linkage with the FBN1 and TGFBR2 genes was excluded, and no mutations were identified in the coding region of TGFBR1, indicating the existence of other genes involved in MFS. Our results suggest that the genetic heterogeneity of MFS may be greater that previously reported.
Keywords Marfan syndrome
Fibrillin-1; TGF-β
Genetic heterogeneity
Language English
Date 2011-08-01
Published in Brazilian Journal of Medical and Biological Research. Associação Brasileira de Divulgação Científica, v. 44, n. 8, p. 793-800, 2011.
ISSN 0100-879X (Sherpa/Romeo, impact factor)
Publisher Associação Brasileira de Divulgação Científica
Extent 793-800
Access rights Open access Open Access
Type Article
Web of Science ID WOS:000294122500009
SciELO ID S0100-879X2011000800009 (statistics in SciELO)

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