Fibrillin‐1 (FBN1) gene frameshift mutations in Marfan patients: genotype–phenotype correlation

• DOI: 10.1034/j.1399-0004.2001.590610.x
• Publication Date: 2003-03-11T11:26:35Z
• Authors: G Pepe; B Giusti; L Evangelisti; MC Porciani; T Brunelli; L Giurlani; M Attanasio; R Fattori; C Bagni; P Comeglio; R Abbate; GF Gensini
• Keywords: Fibrillin

Marfan syndrome (MFS) is a multisystemic disease associated with mutations in the fibrillin‐1 gene. Most of reported are missense substitutions mainly affecting epidermal growth factor (EGF)‐like protein domain structure and calcium‐binding (cb) site. The aim our study was to investigate correlation between frameshift clinical phenotype patients affected by MFS. In 48 out 66 pathogenetic mutation found. We detected novel causing premature termination codon exons 19, 37, 40 41 four Italian patients. first exon 19 (cbEGF #8 domain) results involving skeletal cardiovascular systems. Interestingly, we noticed that, while 37 (eight cysteine domains #4 #5) milder, #24 more severe causes major involvement thoracic abdominal aortic aneurysms. It noteworthy that degree severity one another from literature carrying could be explained alterations mRNA expression.