Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: case presentation

Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan... To the Editor,Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue caused by functional mutations in fibrillin-1 gene (FBN1) [1], characterized by a combination of phenotypic features ranging from mild isolated manifestations to severe, sometimes life-threatening multisystem abnormalities in the skeleton (e.g. overgrowth of the long bones, pectus deformities and dolichostenomelia), in the heart and large arteries (e.g. thoracic aortic aneurysm and dissection, mitral valve prolapse) and in the ocular system (ectopia lentis) [2].FBN1 spans approximately 200 kb on chromosome 15q21.1, including 66 exons of which 65 are coding. Fibrillin-1 is a 350-kDa glycoprotein comprising a large number of cysteine-rich epidermal growth factor (EGF)-like domains, most capable of binding calcium ions (cbEGF-like), and a few motifs homologous to the binding protein for transforming growth factor beta (TGFβ1-BP)-like module [3]. It is abundantly present in the extracellular matrix where it associates to form elastin-connected microfibrils providing stability and elasticity to the connective tissue [1]. Functional FBN1 mutations may lead to abnormalities in fibrillin-1 synthesis, secretion, structure and/or matrix deposition. The loss of fibrillin-1 integrity and its structural defects may also promote abnormal activation of the TGFβ system [3].Here we report a novel causal FBN1 c.1589-9T>A mutation detected http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Clinical Chemistry and Laboratory Medicine (CCLM) de Gruyter

Detection and a functional characterization of the novel FBN1 intronic mutation underlying Marfan syndrome: case presentation

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Publisher
De Gruyter
Copyright
©2018 Walter de Gruyter GmbH, Berlin/Boston
ISSN
1437-4331
eISSN
1437-4331
D.O.I.
10.1515/cclm-2017-0042
Publisher site
See Article on Publisher Site

Abstract

To the Editor,Marfan syndrome (MFS) is an autosomal dominant disease of the connective tissue caused by functional mutations in fibrillin-1 gene (FBN1) [1], characterized by a combination of phenotypic features ranging from mild isolated manifestations to severe, sometimes life-threatening multisystem abnormalities in the skeleton (e.g. overgrowth of the long bones, pectus deformities and dolichostenomelia), in the heart and large arteries (e.g. thoracic aortic aneurysm and dissection, mitral valve prolapse) and in the ocular system (ectopia lentis) [2].FBN1 spans approximately 200 kb on chromosome 15q21.1, including 66 exons of which 65 are coding. Fibrillin-1 is a 350-kDa glycoprotein comprising a large number of cysteine-rich epidermal growth factor (EGF)-like domains, most capable of binding calcium ions (cbEGF-like), and a few motifs homologous to the binding protein for transforming growth factor beta (TGFβ1-BP)-like module [3]. It is abundantly present in the extracellular matrix where it associates to form elastin-connected microfibrils providing stability and elasticity to the connective tissue [1]. Functional FBN1 mutations may lead to abnormalities in fibrillin-1 synthesis, secretion, structure and/or matrix deposition. The loss of fibrillin-1 integrity and its structural defects may also promote abnormal activation of the TGFβ system [3].Here we report a novel causal FBN1 c.1589-9T>A mutation detected

Journal

Clinical Chemistry and Laboratory Medicine (CCLM)de Gruyter

Published: Mar 28, 2018

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