A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome.
Cold Spring Harb Mol Case Stud
; 8(6)2022 10.
Article
in En
| MEDLINE
| ID: mdl-36307213
ABSTRACT
Neonatal Marfan syndrome (nMFS) is a rare and severe form of Marfan syndrome (MFS) with a poor prognosis, that presents with a highly variable phenotype, particularly regarding skeletal, ocular, and cardiovascular manifestations. Mutations in the fibrillin-1 (FBN1) gene are known as the principal cause of MFS and MFS-related syndromes. Here, we report on a full-term female neonate with postnatal characteristics suggestive of nMFS, including severe cardiovascular disease resulting in cardiorespiratory failure and death by 4 mo of age. We identified a novel large genomic in-frame deletion of FBN1 exons 42-45, c.(5065 + 1_5066 - 1)_(5545 + 1_5546 - 1)del. Large FBN1 in-frame deletions between exons 24 and 53 have been associated with severe MFS. The deletion in our patient differs from the FBN1 region associated with the majority of nMFS cases, exons 24-32.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Marfan Syndrome
Type of study:
Etiology_studies
/
Prognostic_studies
Limits:
Female
/
Humans
Language:
En
Journal:
Cold Spring Harb Mol Case Stud
Year:
2022
Document type:
Article
Affiliation country:
Alemania