Document Detail


Role of BIGH3 R124H mutation in the diagnosis of Avellino corneal dystrophy.
MedLine Citation:
PMID:  18465714     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: To report the presence of the R124H mutation in two Spanish families with Avellino corneal dystrophy (ACD). METHODS: Two families with subjects who presented biomicroscopic features of ACD were included in this study. They have no relatives of Italian origin. Genomic DNA of the patients was isolated from peripheral blood. DNA was amplified using primer pairs corresponding to exons 4 and 12. RESULTS: In Family 1, Patients I-1, II-1, and II-3 presented granular deposits in the anterior stroma. In Family 2, Patients I-1 and II-1 presented similar deposits in anterior stroma; Patient I-2 presented biomicroscopic findings similar to granular corneal dystrophy (GCD) and isolated fine lattice deposits. Patient II-2 presented isolated central granular deposits and remarkable lattice deposits in the form of Christmas tree. An identical point mutation in the BIGH3 gene (TGFBI) was observed in all affected members of the two families. The mutation consisted of a substitution of arginine by histidine at amino acid residue 124. It was reflected in the sequence analysis by the presence of a G to A transition at nucleotide 418. The mutation was not found in unaffected family members. CONCLUSIONS: The detection of the R124H BIGH3 mutation confirmed the diagnosis of ACD in the reported families. This is the first study that shows the presence of such mutation in Spain. The authors found the same mutation reported in other countries. In earlier stages, BIGH3 mutation analysis may help to distinguish ACD from GCD, particularly in young patients.
Authors:
V Huerva; A Velasco; M C Sanchez; X Matias-Guiu
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  European journal of ophthalmology     Volume:  18     ISSN:  1120-6721     ISO Abbreviation:  Eur J Ophthalmol     Publication Date:    2008 May-Jun
Date Detail:
Created Date:  2008-05-09     Completed Date:  2008-11-25     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  9110772     Medline TA:  Eur J Ophthalmol     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  345-50     Citation Subset:  IM    
Affiliation:
Ophthalmology Department, University Hospital Arnau de Vilanova, Lleida, University of Lleida, IRB-Lleida - Spain. vhuerva@mixmail.com
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MeSH Terms
Descriptor/Qualifier:
Adult
Aged
Aged, 80 and over
Amino Acid Substitution
Base Sequence
Corneal Dystrophies, Hereditary / diagnosis,  genetics*
Corneal Stroma / pathology
DNA Mutational Analysis
Extracellular Matrix Proteins / genetics*
Female
Humans
Male
Middle Aged
Molecular Sequence Data
Pedigree
Point Mutation*
Polymerase Chain Reaction
Spain
Transforming Growth Factor beta / genetics*
Chemical
Reg. No./Substance:
0/Extracellular Matrix Proteins; 0/Transforming Growth Factor beta; 148710-76-3/betaIG-H3 protein

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