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


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.


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Related Concepts

Genetic Carriers
Marfan Syndrome
Microfilament Proteins
Amino Acid Substitution
Missense Mutation
Extracellular Matrix
Marfan Syndrome

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