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.
A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian Marfan patients / L. Evangelisti; L. Lucarini; M. Attanasio; I. Lapini; B. Giusti; M.C. Porciani; G.F. Gensini; R. Abbate; G. Pepe. - In: EUROPEAN JOURNAL OF MEDICAL GENETICS. - ISSN 1769-7212. - STAMPA. - 53:(2010), pp. 299-302. [10.1016/j.ejmg.2010.06.002]
A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian Marfan patients
EVANGELISTI, LUCIA;L. Lucarini;ATTANASIO, MONICA;LAPINI, ILARIA;GIUSTI, BETTI;PORCIANI, MARIA CRISTINA;GENSINI, GIAN FRANCO;ABBATE, ROSANNA;PEPE, GUGLIELMINA
2010
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.
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