A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian Marfan patients

European Journal of Medical Genetics
L EvangelistiG Pepe

Abstract

The Fibrillin-1 gene (FBN1; chromosome 15q21.1) encodes a major glycoprotein component of the extracellular matrix. Mutations in FBN1, TGFBR1, TGFBR2 are known to cause Marfan syndrome (MIM 154700), a pleiotropic disorder. In the present study, we describe five novel missense FBN1 mutations in five Marfan patients that have the peculiarity to activate two contemporary mutational mechanisms: a missense mutation and exon skipping.

References

Dec 1, 1996·Circulation·D M MilewiczA Biddinger
Aug 15, 2000·Human Molecular Genetics·A J McGettrickP A Handford
Mar 31, 2006·Journal of Medical Genetics·P N RobinsonM Godfrey

Citations

Apr 30, 2019·Scandinavian Journal of Gastroenterology·Anne S StrikGeert R D'Haens
Nov 25, 2014·Expert Opinion on Pharmacotherapy·Andrea AffrontiMario Cottone
Mar 17, 2020·Techniques in Coloproctology·Gianluca PellinoItalian Society of Colorectal Surgery SICCR
Nov 29, 2014·TheScientificWorldJournal·Gianluca Pellino, Francesco Selvaggi

Related Concepts

Mini-Exon
Genetic Carriers
Marfan Syndrome
Microfilament Proteins
Amino Acid Substitution
Missense Mutation
Exons
Extracellular Matrix
Glycoproteins
Marfan Syndrome

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