在五名意大利马凡氏综合征患者的FBN1基因中，一个杂合核苷酸替换表现出两种不同的改变机制。

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

作者信息

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

机构信息

Department of Medical and Surgical Critical Care, University of Florence, Florence, Italy.

出版信息

Eur J Med Genet. 2010 Sep-Oct;53(5):299-302. doi: 10.1016/j.ejmg.2010.06.002. Epub 2010 Jun 9.

DOI:10.1016/j.ejmg.2010.06.002

PMID:20538085

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.

摘要

原纤蛋白-1基因（FBN1；染色体15q21.1）编码细胞外基质的一种主要糖蛋白成分。已知FBN1、TGFBR1、TGFBR2基因的突变会导致马凡综合征（MIM 154700），这是一种多效性疾病。在本研究中，我们描述了5例马凡综合征患者中FBN1基因的5种新的错义突变，这些突变具有激活两种同时存在的突变机制的特性：一种错义突变和外显子跳跃。