A de novo FBN1 missense variant associated with a severe phenotype of early onset Marfan syndrome

Sara Markholt, Jens Skaerbaek, Kim Munk, Brian N. Andersen, Dorte L. Lilballe, Jenny Blechingberg, Jesper P. Petersen, Jesper V. Bjerre, Pernille A. Gregersen*, Kasper J. Kyng

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

7 Downloads (Pure)

Abstract

Early-onset Marfan syndrome is a rare subtype of Marfan Syndrome (MFS), manifesting early in life. Affected individuals typically present with a severe phenotype, with critical signs and symptoms as early as the neonatal or infantile period, most often due to a de novo pathogenic FBN1 variant. We describe a patient with a rare de novo missense variant c.3284G>C (p.(Cys1095Ser)) in exon 27 in FBN1 leading to early onset MFS with severe cardiovascular involvement including heart enlargement with regurgitation of both atrioventricular valves, aortic dilatation and regurgitation manifest from birth, with a fatal outcome.

Original languageEnglish
Article number101751
JournalProgress in Pediatric Cardiology
Volume75
Number of pages5
ISSN1058-9813
DOIs
Publication statusPublished - Dec 2024

Bibliographical note

Publisher Copyright:
© 2024 The Authors

Keywords

  • Cysteine substitution
  • Disulfide bond
  • Early onset Marfan syndrome
  • FBN1
  • Heart failure

Fingerprint

Dive into the research topics of 'A de novo FBN1 missense variant associated with a severe phenotype of early onset Marfan syndrome'. Together they form a unique fingerprint.

Cite this