Analysis of TGFBI gene mutation in a Chinese family with atypical Reis-Buckler corneal dystrophy / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 245-248, 2009.
Article
in Chinese
| WPRIM
| ID: wpr-287415
ABSTRACT
<p><b>OBJECTIVE</b>To identify the TGFBI gene mutation and the relationship between genotype and phenotype of a Chinese family with atypical Reis-Buckler corneal dystrophy (RBCD).</p><p><b>METHODS</b>Four patients, two non-carrier relatives of the family were enrolled in the present study. In addition to ophthalmologic examinations, PCR amplification and DNA sequencing of exons 4, 11, 12, and 14 of the TGFBI gene were carried out. Exon 14 was also sequenced in 100 healthy controls.</p><p><b>RESULTS</b>A G to A transition at codon 623 in all affected members was identified. This mutation resulted in a substitution of glycine (GGC) to aspartic acid (GAC) at the protein level.None of the healthy family members, or any of the 100 control subjects carried this mutation.</p><p><b>CONCLUSION</b>The G623D mutation of the TGFBI gene caused an atypical Reis-Buckler corneal dystrophy in this family. This mutation is reported in Chinese for the first time.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Phenotype
/
Family
/
Corneal Dystrophies, Hereditary
/
Exons
/
Extracellular Matrix Proteins
/
Transforming Growth Factor beta
/
Sequence Analysis, DNA
/
Aspartic Acid
/
Corneal Stroma
Type of study:
Prognostic study
Limits:
Female
/
Humans
/
Male
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2009
Type:
Article
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