Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis.

ABSTRACT:

Purpose

To identify the spectrum and frequency of five candidate genes in Chinese patients with congenital ectopia lentis (EL).

Methods

Forty consecutive and unrelated congenital probands with EL were collected and underwent ocular, skeletal, and cardiovascular examinations. Sanger sequencing was used to analyze all of the coding and adjacent regions of five candidate genes: FBN1, ADAMTS10, ADAMTSL4, TGFBR2, and CBS. Mutation analysis was performed to evaluate the pathogenic variants and to identify the cause of congenital EL.

Results

The FBN1 gene screen revealed 25 pathogenic variants in 34 of the 40 families with congenital EL, including three novel (c.1955G>T, c.2222delA, and c.4381T>C) and 22 known mutations. The ADAMTSL10 gene screen revealed a compound heterozy

SUBMITTER: Li J 

PROVIDER: S-EPMC4105116 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature