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.

journal_name

Chin Med J (Engl)

journal_title

Chinese medical journal

authors

Li Y,Sun XG,Ren HY,Dong B,Wang ZQ,Sun XY

keywords:

subject

Has Abstract

pub_date

2004-09-01 00:00:00

pages

1418-21

issue

9

eissn

0366-6999

issn

2542-5641

journal_volume

117

pub_type

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