Allelic Frequencies of FBN1 Gene Polymorphisms and Genetic Analysis of Italian Families with Marfan Syndrome

2000 ◽  
Vol 50 (3) ◽  
pp. 175-179 ◽  
Author(s):  
Monica Mottes ◽  
Stefania Mirandola ◽  
Federica Rigatelli ◽  
Francesca Zolezzi ◽  
Veronica Lisi ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Marfan Syndrome ◽  
Gene Polymorphisms ◽  
Allelic Frequencies ◽  
Fbn1 Gene

scholarly journals A 2-Year-Old Child with Bilateral Ectopis Lentis and a Novel FBN1 Gene Variant Cys129Ser

2017 ◽  
Vol 07 (02) ◽  
pp. 083-085 ◽  
Author(s):  
Ahmed Mohammad ◽  
Paldeep Atwal
Keyword(s):  
Genetic Analysis ◽  
Marfan Syndrome ◽  
Pathogenic Variant ◽  
Gene Variant ◽  
Ectopia Lentis ◽  
Fbn1 Gene ◽  
Pathogenic Variants ◽  
Syndrome Diagnosis ◽  
History Of

AbstractMarfan syndrome and dominant ectopia lentis are part of type 1 fibrillinopathies that are caused by FBN1 pathogenic variants. Making a diagnosis could be challenging due to the clinical overlap between these disorders. The revised Ghent criteria used for Marfan syndrome diagnosis helped in resolving some of the confusion, especially in younger children. We report on a case of bilateral ectopia lentis in a 2-year-old child with a normal echocardiogram. FBN1 sequencing revealed a novel likely pathogenic variant described as c.385T > A (p.Cys129Ser). The patient's father also has a history of bilateral ectopia lentis and his genetic analysis detected the same FBN1 variant as the proband.

scholarly journals Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome

2021 ◽  
Author(s):  
Pauline Arnaud ◽  
Hélène Morel ◽  
Olivier Milleron ◽  
Laurent Gouya ◽  
Christine Francannet ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Somatic Mosaicism ◽  
Variant Calling ◽  
Copy Number Variations ◽  
Pathogenic Variant ◽  
Single Nucleotide Variants ◽  
Bioinformatics Analyses ◽  
Single Nucleotide ◽  
Fbn1 Gene ◽  
Pathogenic Variants

Abstract Purpose Individuals with mosaic pathogenic variants in the FBN1 gene are mainly described in the course of familial screening. In the literature, almost all these mosaic individuals are asymptomatic. In this study, we report the experience of our team on more than 5,000 Marfan syndrome (MFS) probands. Methods Next-generation sequencing (NGS) capture technology allowed us to identify five cases of MFS probands who harbored a mosaic pathogenic variant in the FBN1 gene. Results These five sporadic mosaic probands displayed classical features usually seen in Marfan syndrome. Combined with the results of the literature, these rare findings concerned both single-nucleotide variants and copy-number variations. Conclusion This underestimated finding should not be overlooked in the molecular diagnosis of MFS patients and warrants an adaptation of the parameters used in bioinformatics analyses. The five present cases of symptomatic MFS probands harboring a mosaic FBN1 pathogenic variant reinforce the fact that apparently asymptomatic mosaic parents should have a complete clinical examination and a regular cardiovascular follow-up. We advise that individuals with a typical MFS for whom no single-nucleotide pathogenic variant or exon deletion/duplication was identified should be tested by NGS capture panel with an adapted variant calling analysis.

scholarly journals A bioinformatics framework for genotype–phenotype correlation in humans with Marfan syndrome caused by FBN1 gene mutations

2006 ◽  
Vol 39 (2) ◽  
pp. 171-183 ◽  
Author(s):  
Christian Baumgartner ◽  
Gábor Mátyás ◽  
Beat Steinmann ◽  
Martin Eberle ◽  
Jörg I. Stein ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Gene Mutations ◽  
Phenotype Correlation ◽  
Fbn1 Gene ◽  
Genotype Phenotype Correlation

Mutation analysis of the FBN1 gene in a cohort of patients with Marfan Syndrome: A 10-year single center experience

2020 ◽  
Vol 501 ◽  
pp. 154-164 ◽  
Author(s):  
Liliana Mannucci ◽  
Serena Luciano ◽  
Leila B. Salehi ◽  
Laura Gigante ◽  
Chiara Conte ◽  
...  
Keyword(s):  
Marfan Syndrome ◽  
Mutation Analysis ◽  
Single Center ◽  
Single Center Experience ◽  
Fbn1 Gene

scholarly journals Genetic Analysis of Candidate Gene Polymorphisms in Elderly Hypertension.

1999 ◽  
Vol 36 (8) ◽  
pp. 547-552 ◽  
Author(s):  
Tomohiro Katsuya ◽  
Jitsuo Higaki ◽  
Kazuhiko Ishikawa ◽  
Noriyuki Sato ◽  
Toshio Ogihara
Keyword(s):  
Genetic Analysis ◽  
Candidate Gene ◽  
Gene Polymorphisms

scholarly journals Undescribed mutations in FBN1 gene in two family cases of Marfan syndrome

2014 ◽  
Vol 10 (6) ◽  
pp. 235-237
Author(s):  
Fernando Cabrera-Bueno ◽  
Francisco Fernandez-Rosado ◽  
Maria Jesus Alvarez-Cubero ◽  
Esther Martinez-Espin ◽  
Carmen Entrala-Bernal
Keyword(s):  
Marfan Syndrome ◽  
Fbn1 Gene

scholarly journals Marfan Syndrome Variability: Investigation of the Roles of Sarcolipin and Calcium as Potential Transregulator of FBN1 Expression

Genes ◽  
2018 ◽  
Vol 9 (9) ◽  
pp. 421 ◽  
Author(s):  
Louise Benarroch ◽  
Mélodie Aubart ◽  
Marie-Sylvie Gross ◽  
Marie-Paule Jacob ◽  
Pauline Arnaud ◽  
...  
Keyword(s):  
Gene Expression ◽  
Marfan Syndrome ◽  
Messenger Rna ◽  
Calcium Influx ◽  
Surrogate Endpoint ◽  
Connective Tissue Disorder ◽  
Eqtl Analysis ◽  
Chromosome 11 ◽  
Fbn1 Gene ◽  
The Impact

Marfan syndrome (MFS) is an autosomal dominant connective tissue disorder that displays a great clinical variability. Previous work in our laboratory showed that fibrillin-1 (FBN1) messenger RNA (mRNA) expression is a surrogate endpoint for MFS severity. Therefore, an expression quantitative trait loci (eQTL) analysis was performed to identify trans-acting regulators of FBN1 expression, and a significant signal reached genome-wide significant threshold on chromosome 11. This signal delineated a region comprising one expressed gene, SLN (encoding sarcolipin), and a single pseudogene, SNX7-ps1 (CTD-2651C21.3). We first investigated the region and then looked for association between the genes in the region and FBN1 expression. For the first time, we showed that the SLN gene is weakly expressed in skin fibroblasts. There is no direct correlation between SLN and FBN1 gene expression. We showed that calcium influx modulates FBN1 gene expression. Finally, SLN gene expression is highly correlated to that of the neighboring SNX7-ps1. We were able to confirm the impact of calcium influx on FBN1 gene expression but we could not conclude regarding the role of sarcolipin and/or the eQTL locus in this regulation.

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