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; C. Porciani; G. F. Gensini; R. Abbate; G. Pepe

doi: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

L. Evangelisti, L. Lucarini, M. Attanasio, I. Lapini, B. Giusti, C. Porciani, G. F. Gensini, R. Abbate, G. Pepe

Fondazione Don Carlo Gnocchi Onlus

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	299-302
Number of pages	4
Journal	European Journal of Medical Genetics
Volume	53
Issue number	5
DOIs	https://doi.org/10.1016/j.ejmg.2010.06.002
Publication status	Published - Sept 2010

Keywords

Alternative splicing
FBN1 mutations
Fibrillin
Marfan syndrome

ASJC Scopus subject areas

Genetics
Genetics(clinical)

Access to Document

10.1016/j.ejmg.2010.06.002

Cite this

@article{0231b6c521054375a8c68851cb517d20,

title = "A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian marfan patients",

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.",

keywords = "Alternative splicing, FBN1 mutations, Fibrillin, Marfan syndrome",

author = "L. Evangelisti and L. Lucarini and M. Attanasio and I. Lapini and B. Giusti and C. Porciani and Gensini, {G. F.} and R. Abbate and G. Pepe",

year = "2010",

month = sep,

doi = "10.1016/j.ejmg.2010.06.002",

language = "English",

volume = "53",

pages = "299--302",

journal = "European Journal of Medical Genetics",

issn = "1769-7212",

publisher = "Elsevier Masson SAS",

number = "5",

}

TY - JOUR

T1 - A single heterozygous nucleotide substitution displays two different altered mechanisms in the FBN1 gene of five Italian marfan patients

AU - Evangelisti, L.

AU - Lucarini, L.

AU - Attanasio, M.

AU - Lapini, I.

AU - Giusti, B.

AU - Porciani, C.

AU - Gensini, G. F.

AU - Abbate, R.

AU - Pepe, G.

PY - 2010/9

Y1 - 2010/9

N2 - 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.

AB - 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.

KW - Alternative splicing

KW - FBN1 mutations

KW - Fibrillin

KW - Marfan syndrome

UR - http://www.scopus.com/inward/record.url?scp=77956935084&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=77956935084&partnerID=8YFLogxK

U2 - 10.1016/j.ejmg.2010.06.002

DO - 10.1016/j.ejmg.2010.06.002

M3 - Article

C2 - 20538085

AN - SCOPUS:77956935084

SN - 1769-7212

VL - 53

SP - 299

EP - 302

JO - European Journal of Medical Genetics

JF - European Journal of Medical Genetics

IS - 5

ER -

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

Abstract

Keywords

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this