Open AccessAn enormous Italian pedigree of Marfan syndrome with a novel mutation in the FBN1 gene
Author(s) -
Daneshjoo Omid,
Salehi Leila B.,
Pizzuti Antonio,
Novelli Giuseppe,
Sangiuolo Federica
Publication year - 2020
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.2881
Subject(s) - marfan syndrome , genetics , fibrillin , medicine , mutation , gene , phenotype , pathological , bioinformatics , biology , pathology
We characterize a large Italian family presenting with Marfan syndrome (MFS), where the same NM_000138.4:c.6872‐1G > T splice site mutation in the FBN1 gene was detected in 37 affected individuals with different pathological phenotypes. Further studies on such a large pedigree could identify other genetic factors that influence MFS manifestation.