Two novel mutations of fibrillin-1 gene correlate with different phenotypes of Marfan syndrome in Chinese families.

ABSTRACT:

Purpose

To identify the causative mutations in two Chinese families with autosomal dominant Marfan syndrome and to describe the associated phenotypes.

Methods

Complete physical, ophthalmic, and cardiovascular examinations were given to the patients and unaffected individuals in the two families. Exclusive linkage mapping was performed for transforming growth factor beta receptor II (TGFBR2) and fibrillin-1 (FBN1) loci in both families. The entire coding region and flanking splice sites of the FBN1 gene were screened for mutations in the two families with Sanger sequencing. The potential mutations of FBN1 were tested in 100 normal controls.

Results

Lens dislocation was observed in two out of ten patients in the MF1 family and all patients in the MF2 family. However, th

SUBMITTER: Zhao F 

PROVIDER: S-EPMC3626374 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature