Mutación c.3037G>A en el gen FBN1 causa sindrome de Marfan con fenotipo atípico severo

Translated title of the contribution: A c.3037G>a mutation in FBN1 gene causing marfan syndrome with an atypically severe phenotype

Michele Callea, Colin Eric Willoughby, Francisco Camarata-Scalisi, Isabella Giovannoni, Agatino Vinciguerra, Izzet Yavuz, Mariateresa Di Stazio, Enzo Di Iorio, Gabriella Clarich, Alessandra Benettoni, Angela Galeotti, Emanuele Bellacchio

Research output: Contribution to journalArticle

Abstract

Marfan syndrome is a pleiotropic connective tissue disease inherited as an autosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located on chromosome 15q21.1 and encoding fibrillin 1. We report a case of Marfan syndrome presenting with severe ocular and systemic manifestations, such as cardiac congenital anomalies. The patient underwent a multidisciplinary approach and his clinical diagnosis was associated with a c.3037G>A mutation in the FBN1 gene. Identification of this genetic alteration should instigate a prompt multidisciplinary assessment and monitoring, in order to prevent devastating consequences such as cardiac and ocular phenotype. Molecular modeling of the mutation highlighted the importance of the preservation of the calcium-dependent structure of an epidermal-growth-factor-like domain of fibrillin-1 and consequently the microfibrillar formation process. This report aims to highlight the importance of an early clinical and molecular diagnosis and once more, the importance of the multidisciplinary approach of this genetic entity.

Translated title of the contributionA c.3037G>a mutation in FBN1 gene causing marfan syndrome with an atypically severe phenotype
Original languageSpanish
Pages (from-to)70-78
Number of pages9
JournalInvestigacion Clinica (Venezuela)
Volume58
Issue number1
Publication statusPublished - Jan 1 2017

Keywords

  • C.3037G>A
  • FBN1
  • Marfan syndrome
  • Phenotype

ASJC Scopus subject areas

  • Medicine(all)

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  • Cite this

    Callea, M., Willoughby, C. E., Camarata-Scalisi, F., Giovannoni, I., Vinciguerra, A., Yavuz, I., Di Stazio, M., Di Iorio, E., Clarich, G., Benettoni, A., Galeotti, A., & Bellacchio, E. (2017). Mutación c.3037G>A en el gen FBN1 causa sindrome de Marfan con fenotipo atípico severo. Investigacion Clinica (Venezuela), 58(1), 70-78.