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A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome
Sümeyye Elgaz1, Boris Wittekindt1, Anoosh Esmaeili2
1Department of Neonatology, Clinic for Children and Adolescents, University Hospital, 60590 Frankfurt/Main, Germany.
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.
Insights
Neonatal Marfan syndrome (nMFS) is a severe condition caused by FBN1 gene mutations. This study identifies a novel FBN1 deletion in an infant with nMFS, expanding knowledge of genotype-phenotype correlations.
Area of Science:
- Genetics
- Pediatrics
- Cardiology
Background:
- Neonatal Marfan syndrome (nMFS) is a rare, severe disorder with variable clinical presentations.
- Mutations in the fibrillin-1 (FBN1) gene are the primary cause of MFS and related syndromes.
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