A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian Marfan patients.
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.
Department of Medical and Surgical Critical Care, University of Florence, Florence, Italy. lucia.evangelisti@gmail.com
L
L
Evangelisti
L
L
Lucarini
M
M
Attanasio
I
I
Lapini
B
B
Giusti
C
C
Porciani
G F
GF
Gensini
R
R
Abbate
G
G
Pepe
D000328:Adult; D019943:Amino Acid Substitution; D002648:Child; D005091:Exons; D005260:Female; D000071838:Fibrillin-1; D000071837:Fibrillins; D006579:Heterozygote; D006801:Humans; D008297:Male; D008382:Marfan Syndrome; D008840:Microfilament Proteins / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D020125:Mutation, Missense; D054392:Adipokines
D000071838:Fibrillin-1; D000071837:Fibrillins; D008840:Microfilament Proteins; C000605722:FBN1 protein, human; D054392:Adipokines