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 language | English |
|---|---|
| Pages (from-to) | 70-8 |
| Number of pages | 9 |
| Journal | Investigacion Clinica |
| Volume | 58 |
| Issue number | 1 |
| Publication status | Published - Mar 2017 |
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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 journal › Article
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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 -