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

ConclusionIn conclusion,FBN1 variant c.1453C>T, p.(Arg485Cys) is a pathogenic variant that can cause autosomal dominant Marfan syndrome characterized by a high degree of clinical variability and apparently isolated early onset familial abdominal aortic aneurysms.

Source: Molecular Genetics & Genomic Medicine - November 28, 2018 Category: Genetics & Stem Cells Authors: Eline Overwater, Rifka Efrat, Daniela Q. C. M. Barge ‐Schaapveld, Phillis Lakeman, Marjan M. Weiss, Alessandra Maugeri, J. Peter van Tintelen, Arjan C. Houweling Tags: ORIGINAL ARTICLE Source Type: research