FBN1


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Related to FBN1: Fibrillin, Marfan syndrome

FBN1

A gene on chromosome 15q21.1 that encodes fibrillin 1, a member of the fibrillin family, which is a large, extracellular matrix glycoprotein. Fibrillin 1 provides structural component of 10–12-nm calcium-binding microfibrils, which provide force-bearing support in elastic and nonelastic connective tissue throughout the body.

Molecular pathology
FBN1 mutations are associated with Marfan syndrome, ectopia lentis, autosomal dominant Weill-Marchesani syndrome, MASS syndrome and Shprintzen-Goldberg craniosynostosis syndrome.
References in periodicals archive ?
Classic, atypically severe and neonatal Marfan syndrome: twelve mutations and genotype-phenotype correlations in FBN1 exons 24-40.
The sensitivity/specificity values for FBN1 and CNRIP1 biomarkers were determined as 79/99 and 94/95, correspondingly, in the study of DNA methylation in tumor and adjacent tissue samples [22].
700 mutaciones en el gen FBN 1 relacionadas con la enfermedad (18) Actualmente se consideran varias mutaciones particulares del FBN1 como de potencial patogenico para SM segun los parametros propuestos en la nosologia (tabla 4).
Because no mutation of the FBN1 gene has been found in nearly half of MFS patients, there may be some other genes carrying mutations responsible for MFS.
Transmission of Marfan syndrome is as an autosomal dominant trait, and is caused by mutations in FBN1, the gene encoding the microfibrillar protein, fibrillin-1 [De Coster et al.
Atualmente o diagnostico clinico e o unico meio que pode determinar se o sujeito e portador da Sindrome de Marfan, uma vez que o teste laboratorial negativo para o FBN1 nao exclui o diagnostico (Hendriksen e Christensen, 1998; Murray e Jacobson, 1982; Caffey, 1982).
6) Absolute proof came in 1991 when mutational analysis of FBN1 in patients with Marfan syndrome resulted in the identification of 2 unrelated patients with identical mutations.