Family-based whole-exome sequencing identifies novel loss-of-function mutations of FBN1 for Marfan syndrome.

ABSTRACT:

Background

Marfan syndrome (MFS) is an inherited connective tissue disorder affecting the ocular, skeletal and cardiovascular systems. Previous studies of MFS have demonstrated the association between genetic defects and clinical manifestations. Our purpose was to investigate the role of novel genetic variants in determining MFS clinical phenotypes.

Methods

We sequenced the whole exome of 19 individuals derived from three Han Chinese families. The sequencing data were analyzed by a standard pipeline. Variants were further filtered against the public database and an in-house database. Then, we performed pedigree analysis under different inheritance patterns according to American College of Medical Genetics guidelines. Results were confirmed by Sanger sequencing.

Results

SUBMITTER: Pu Z 

PROVIDER: S-EPMC6238762 | biostudies-literature | 2018

REPOSITORIES: biostudies-literature