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 anautosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located onchromosome 15q21.1 and encoding fibrillin 1. We report a case of Marfan syndrome presentingwith severe ocular and systemic manifestations, such as cardiac congenital anomalies.The patient underwent a multidisciplinary approach and his clinical diagnosis was associatedwith a c.3037G>A mutation in the FBN1 gene. Identification of this genetic alteration shouldinstigate a prompt multidisciplinary assessment and monitoring, in order to prevent devastatingconsequences such as cardiac and ocular phenotype. Molecular modeling of the mutationhighlighted the importance of the preservation of the calcium-dependent structure of an epidermal-growth-factor-like domain of fibrillin-1 and consequently the microfibrillar formationprocess. This report aims to highlight the importance of an early clinical and molecular diagnosisand once more, the importance of the multidisciplinary approach of this genetic entity.

Original languageEnglish
Pages (from-to)70-8
Number of pages9
JournalInvestigacion Clinica
Volume58
Issue number1
Publication statusPublished - Mar 2017

Fingerprint

Marfan Syndrome
Eye Manifestations
Phenotype
Mutation
Connective Tissue Diseases
Epidermal Growth Factor
Genes
Calcium
Fibrillin-1

Keywords

  • Adult
  • Fibrillin-1/genetics
  • Humans
  • Male
  • Marfan Syndrome/genetics
  • Mutation
  • Phenotype
  • Severity of Illness Index

Cite this

A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype. / Callea, Michele; Eric Willoughby, Colin; Camarata-Scalisi, Francisco; Giovannoni, Isabella; Vinciguerra, Agatino; Yavuz, Izzet; Di Stazio, Mariateresa; Di Iorio, Enzo; Clarich, Gabriella; Benettoni, Alessandra; Galeotti, Angela; Bellacchio, Emanuele.

In: Investigacion Clinica, Vol. 58, No. 1, 03.2017, p. 70-8.

Research output: Contribution to journalArticle

Callea, M, Eric Willoughby, C, Camarata-Scalisi, F, Giovannoni, I, Vinciguerra, A, Yavuz, I, Di Stazio, M, Di Iorio, E, Clarich, G, Benettoni, A, Galeotti, A & Bellacchio, E 2017, 'A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype', Investigacion Clinica, vol. 58, no. 1, pp. 70-8.
Callea M, Eric Willoughby C, Camarata-Scalisi F, Giovannoni I, Vinciguerra A, Yavuz I et al. A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype. Investigacion Clinica. 2017 Mar;58(1):70-8.
Callea, Michele ; Eric Willoughby, Colin ; Camarata-Scalisi, Francisco ; Giovannoni, Isabella ; Vinciguerra, Agatino ; Yavuz, Izzet ; Di Stazio, Mariateresa ; Di Iorio, Enzo ; Clarich, Gabriella ; Benettoni, Alessandra ; Galeotti, Angela ; Bellacchio, Emanuele. / A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype. In: Investigacion Clinica. 2017 ; Vol. 58, No. 1. pp. 70-8.
@article{7f5afec01a29415d9210fbfd0187db89,
title = "A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype",
abstract = "Marfan syndrome is a pleiotropic connective tissue disease inherited as anautosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located onchromosome 15q21.1 and encoding fibrillin 1. We report a case of Marfan syndrome presentingwith severe ocular and systemic manifestations, such as cardiac congenital anomalies.The patient underwent a multidisciplinary approach and his clinical diagnosis was associatedwith a c.3037G>A mutation in the FBN1 gene. Identification of this genetic alteration shouldinstigate a prompt multidisciplinary assessment and monitoring, in order to prevent devastatingconsequences such as cardiac and ocular phenotype. Molecular modeling of the mutationhighlighted the importance of the preservation of the calcium-dependent structure of an epidermal-growth-factor-like domain of fibrillin-1 and consequently the microfibrillar formationprocess. This report aims to highlight the importance of an early clinical and molecular diagnosisand once more, the importance of the multidisciplinary approach of this genetic entity.",
keywords = "Adult, Fibrillin-1/genetics, Humans, Male, Marfan Syndrome/genetics, Mutation, Phenotype, Severity of Illness Index",
author = "Michele Callea and {Eric Willoughby}, Colin and Francisco Camarata-Scalisi and Isabella Giovannoni and Agatino Vinciguerra and Izzet Yavuz and {Di Stazio}, Mariateresa and {Di Iorio}, Enzo and Gabriella Clarich and Alessandra Benettoni and Angela Galeotti and Emanuele Bellacchio",
year = "2017",
month = "3",
language = "English",
volume = "58",
pages = "70--8",
journal = "Investigacion Clinica",
issn = "0535-5133",
publisher = "Instituto de Investigaciones Clinicas",
number = "1",

}

TY - JOUR

T1 - A c.3037G>A mutation in FBN1 gene causing Marfan syndrome with an atypically severe phenotype

AU - Callea, Michele

AU - Eric Willoughby, Colin

AU - Camarata-Scalisi, Francisco

AU - Giovannoni, Isabella

AU - Vinciguerra, Agatino

AU - Yavuz, Izzet

AU - Di Stazio, Mariateresa

AU - Di Iorio, Enzo

AU - Clarich, Gabriella

AU - Benettoni, Alessandra

AU - Galeotti, Angela

AU - Bellacchio, Emanuele

PY - 2017/3

Y1 - 2017/3

N2 - Marfan syndrome is a pleiotropic connective tissue disease inherited as anautosomal dominant trait, mostly caused by mutations in the FBN1 gene, which is located onchromosome 15q21.1 and encoding fibrillin 1. We report a case of Marfan syndrome presentingwith severe ocular and systemic manifestations, such as cardiac congenital anomalies.The patient underwent a multidisciplinary approach and his clinical diagnosis was associatedwith a c.3037G>A mutation in the FBN1 gene. Identification of this genetic alteration shouldinstigate a prompt multidisciplinary assessment and monitoring, in order to prevent devastatingconsequences such as cardiac and ocular phenotype. Molecular modeling of the mutationhighlighted the importance of the preservation of the calcium-dependent structure of an epidermal-growth-factor-like domain of fibrillin-1 and consequently the microfibrillar formationprocess. This report aims to highlight the importance of an early clinical and molecular diagnosisand once more, the importance of the multidisciplinary approach of this genetic entity.

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

KW - Adult

KW - Fibrillin-1/genetics

KW - Humans

KW - Male

KW - Marfan Syndrome/genetics

KW - Mutation

KW - Phenotype

KW - Severity of Illness Index

M3 - Article

C2 - 29939511

VL - 58

SP - 70

EP - 78

JO - Investigacion Clinica

JF - Investigacion Clinica

SN - 0535-5133

IS - 1

ER -