Identification and study of a FBN1 gene mutation in a Chinese family with ectopia lentis.

ABSTRACT:

Purpose

To identify the mutation in the fibrillin-1 gene (FBN1) in a Chinese family with ectopia lentis (EL) and to predict the structural and functional consequences of the mutation.

Methods

Patients and family members were given complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from leukocytes of venous blood of three affected and three unaffected individuals in the family, and 100 healthy controls. All 65 coding exons and their flanking intronic boundaries of FBN1 were amplified in the proband by polymerase chain reaction, followed by direct sequencing. The mutation identified in the proband was screened for in other family members and 100 healthy controls by direct sequencing. Protein conservation analysis was performed in seven sp

SUBMITTER: Li H 

PROVIDER: S-EPMC3291523 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature