Autosomal dominant Marfan syndrome caused by a previously reported recessive FBN1 variant.

ABSTRACT:

Background

Pathogenic variants in FBN1 cause autosomal dominant Marfan syndrome but can also be found in patients presenting with apparently isolated features of Marfan syndrome. Moreover, several families with autosomal recessive Marfan syndrome caused by pathogenic variants in FBN1 have been described. The aim of this report was to underline the clinical variability that can be associated with the pathogenic variant c.1453C>T, p.(Arg485Cys) in FBN1.

Methods

We provide the clinical details of two autosomal dominant families with this specific FBN1 variant, which was previously associated with autosomal recessive Marfan syndrome.

Results

Clinical data of 14 individuals carrying this variant from these two families were collected retrospectively. In both families, the

SUBMITTER: Overwater E 

PROVIDER: S-EPMC6393656 | biostudies-literature | 2019 Feb

REPOSITORIES: biostudies-literature