Analysis of human transforming growth factor beta-induced gene mutation in corneal dystrophy / 中华医学杂志(英文版)
Chinese Medical Journal
;
(24): 1418-1421, 2004.
Article
in English
| WPRIM
| ID: wpr-291909
ABSTRACT
<p><b>BACKGROUND</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSION</b>Molecular genetic analysis can improve accurate diagnosis of corneal dystrophy.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pathology
/
Corneal Dystrophies, Hereditary
/
Extracellular Matrix Proteins
/
Transforming Growth Factor beta
/
Genetics
/
Mutation
Type of study:
Prognostic study
Limits:
Adolescent
/
Adult
/
Child
/
Child, preschool
/
Female
/
Humans
/
Male
Language:
English
Journal:
Chinese Medical Journal
Year:
2004
Type:
Article
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