Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy.

Abstract

BACKGROUND:

Corneal dystrophy is a group of inherited blinding diseases of the cornea. This study was to identify the mutations of the keratoepithelin (KE) gene for proper diagnosis of corneal dystrophy.

METHODS:

Three families with corneal dystrophy were analysed. Thirteen individuals at risk for corneal dystrophy in family A, the proband and her son in family B, and the proband in family C were examined after their blood samples were obtained. Mutation screening of human transforming growth factor beta-induced gene (BIGH3 gene) was performed.

RESULTS:

Five individuals in family A were found by clinical evaluation to be affected with granular corneal dystrophy and carried the BIGH3 mutation W555R. However, both probands in families B and C, also diagnosed with granular corneal dystrophy, harboured the BIGH3 mutation R124H.

CONCLUSION:

Molecular genetic analysis can improve accurate diagnosis of corneal dystrophy.

• Authors: Yang Li, Xu-guang Sun, Hui-yuan Ren, Bing Dong, Zhi-qun Wang, Xiu-ying Sun
• Journal: Chinese medical journal (Chin Med J (Engl)) Vol. 117 Issue 9 Pg. 1418-21 (Sep 2004) ISSN: 0366-6999 [Print] China
• PMID: 15377440 (Publication Type: Journal Article)

Chemical References

• Extracellular Matrix Proteins
• Transforming Growth Factor beta
• betaIG-H3 protein

Topics

• Adolescent
• Adult
• Child
• Child, Preschool
• Corneal Dystrophies, Hereditary (genetics, pathology)
• Extracellular Matrix Proteins (genetics)
• Female
• Humans
• Male
• Middle Aged
• Mutation
• Transforming Growth Factor beta (genetics)