BIGH3 gene analysis in the differential diagnosis of corneal dystrophies
| Autor: | I. Kocak-midillioğlu, A N Akarsu, Sunay Duman, A.G. Koçak-altintas |
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| Rok vydání: | 2001 |
| Předmět: |
Proband
Adult Male Pathology medicine.medical_specialty Adolescent Corneal dystrophy Biology Polymerase Chain Reaction law.invention Cornea Diagnosis Differential Exon law Transforming Growth Factor beta medicine Humans Point Mutation Child Gene Polymerase chain reaction Aged Corneal Dystrophies Hereditary Extracellular Matrix Proteins Point mutation DNA Exons Middle Aged medicine.disease eye diseases Neoplasm Proteins Pedigree Granular corneal dystrophy Ophthalmology Phenotype Female sense organs Differential diagnosis |
| Zdroj: | Cornea. 20(1) |
| ISSN: | 0277-3740 |
| Popis: | Purpose To identify the mutation in the keratoepithelin gene for proper diagnosis of granular corneal dystrophies. Methods Four generations of a single family with corneal dystrophy were analyzed. Fourteen family members were examined and 11 were found to be affected by clinical evaluation. Genetic DNA was extracted from proband's leukocytes for molecular analysis. Exons 4 and 12 of the BIGH3 gene were amplified then directly sequenced. Results The clinical appearance of corneas consisted of grayish white granules with sharp borders, fine dots, and radial lines in the superficial part of the central corneal stroma, which resembles granular and Avellino corneal dystrophies. Performing BIGH3 gene analysis, we observed a C-to-T transition at position 1710 (CGG to TGG) producing R555W mutation, which is a hot spot for granular corneal dystrophy. Conclusion Direct clinical examination may be insignificant in the proper diagnosis of corneal dystrophies, and molecular genetic approach may be required. |
| Databáze: | OpenAIRE |
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