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

Eline OverwaterRifka EfratDaniela Q C M Barge-Schaapveld Phillis Lakeman Janneke M Weiss Alessandra Maugeri van J Peter TintelenArjan C Houweling

Published in: Molecular genetics & genomic medicine (2018)

In 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.

Keyphrases

early onset
abdominal aortic
late onset
case report
aortic aneurysm
aortic dissection
intellectual disability
muscular dystrophy