A novel p.R890C mutation in EPHA2 gene associated with progressive childhood posterior cataract in a Chinese family.

ABSTRACT:

Aim

To identify the genetic defect in a Chinese family with bilateral progressive childhood posterior cataract.

Methods

A two-generation family was recruited in this study. Family history and clinical data were recorded. All reported candidate genes associated with congenital posterior cataract were screened by direct DNA sequencing.

Results

All affected individuals presented posterior opacities in the lens. Direct sequencing of the candidate genes showed a heterozygous c. 2668C>T variation in EPHA2 gene, which resulted in the replacement of arginine by cysteine at codon 890 (p. R890C). This mutation was found in two affected individuals, but was not observed in 200 normal controls.

Conclusion

We report a novel mutation (p. R890C) in the EPHA2 receptor tyrosine

SUBMITTER: Shentu XC 

PROVIDER: S-EPMC3580246 | biostudies-literature | 2013

REPOSITORIES: biostudies-literature