Medizinische Universität Graz - Research portal
Selected Publication:
el-Shabrawi, Y; Ardjomand, N; Faschinger, C; Höfler, G.
Lattice corneal dystrophy. Detection of a point mutation in the kerato-epithelin gene
Ophthalmologe. 1999; 96(6):405-407
Doi: 10.1007/s003470050426
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- Leading authors Med Uni Graz
- El-Shabrawi Yosuf
- Co-authors Med Uni Graz
- Ardjomand Navid
- Faschinger Christoph
- Höfler Gerald
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- Abstract:
- BACKGROUND: Lattice dystrophy is an autosomal-dominantly inherited disease. A mutation of the gene coding for kerato-epithelin has been found in patients with this stromal dystrophy. In codon 124 a Guanine to Adenine mutation of the nucleotide 417 has been described. We looked for this mutation in a family with lattice dystrophy treated in our clinic. PATIENTS AND METHODS: Using primers specific for kerato-epithelin gene, we amplified the cDNA extracted from lymphocytes of two patients suffering from lattice dystrophy. The polymerase chain reaction (PCR) products were subcloned and sequenced. RESULTS: Guanine to Adenine mutations, as published were detected in both of our patients at codon 124. CONCLUSION: We found the published mutation in both of our patients, indicating that this Guanine to Adenine exchange is pathognomonic for lattice dystrophy.
- Find related publications in this database (using NLM MeSH Indexing)
- Chromosome Aberrations - genetics
- Chromosome Disorders - genetics
- Codon - genetics
- Corneal Dystrophies, Hereditary - genetics
- Female - genetics
- Genes, Dominant - genetics
- Humans - genetics
- Keratins - genetics
- Point Mutation - genetics
- Polymerase Chain Reaction - genetics
- Find related publications in this database (Keywords)
- Lattice Dystrophy
- Cornea
- Beta-Ig-H3-Mutation-Kerato-Epitheline Gene