Novel and recurrent FBN1 mutations causing Marfan syndrome in two Chinese families.

ABSTRACT:

Background

To explore the genetic defects of two families with autosomal dominant Marfan syndrome (MFS).

Methods

Two families with MFS were enrolled in this study. The detailed ocular presentations of the patients were recorded. Whole exome sequencing was performed to explore the pathogenic variants and Sanger sequencing was performed to confirm the gene mutations. Segregation analysis among the family members was made and bioinformatics analysis was performed to predict the functional impact of the mutations.

Results

The main ocular presentations of the probands were increased axial length and ectopia lentis. Using whole exome sequencing and Sanger sequencing, a novel heterozygous missense mutation (c.5060G > C, p.Cys1687Ser) and a recurrent missense mutation (c.2168

SUBMITTER: Li D 

PROVIDER: S-EPMC9792469 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature