Three Novel Variants identified in FBN1 and TGFBR2 in seven Iranian families with suspected Marfan syndrome.

ABSTRACT:

Background

Marfan syndrome (MFS) is a multi-systemic autosomal dominant disease of the connective tissue characterized by the early development of thoracic aneurysms/dissections, along with various manifestations of the ocular and skeletal systems. Due to the genetic and clinical heterogeneity, the clinical diagnosis of this disorder is challenging. Loss-of-function mutations in FBN1 (encodes fibrillin-1) lead to MFS type 1. Also, similar mutations in transforming growth factor β receptor 2 (TGFBR2) gene cause MFS type 2. Both proteins involve in TGF-β signaling.

Methods

In this study, genetic screening using a panel involving 14 genes, especially FBN1 and TGFBR2, were performed on seven representatives affected members of seven unrelated Iranian families suspected with MFS.

SUBMITTER: Bitarafan F 

PROVIDER: S-EPMC7434737 | biostudies-literature | 2020 Aug

REPOSITORIES: biostudies-literature