| Autor: |
Fishman, Gerald A., Vandenburgh, Kimberlie, Stone, Edwin M., Gilbert, Leonardo D., Alexander, Kenneth R., Sheffield, Val C. |
| Zdroj: |
Archives of Ophthalmology; November 1992, Vol. 110 Issue: 11 p1582-1588, 7p |
| Abstrakt: |
• Two members of a family with autosomal dominant retinitis pigmentosa were found to have a cytosine-to-thymine mutation in the second nucleotide of codon 267 in the rhodopsin gene that resulted in a proline-to-leucine change. Two members of another family with autosomal dominant retinitis pigmentosa showed a guanine-to-thymine mutation in the first nucleotide of codon 190 in the rhodopsin gene that resulted in an aspartate-to-tyrosine change. Three members from a third family with autosomal dominant retinitis pigmentosa were also found to have a mutation in codon 190; however, this guanine-toadenine mutation in the first nucleotide of codon 190 resulted in an aspartate-toasparagine change. The relatively less severe functional retinal impairment in our patients with a transmembrane codon 267 rhodopsin gene mutation is generally comparable with that observed in a previously described codon 58 transmembrane mutation. The two families with different intradiscal codon 190 mutations showed a considerable difference in severity of their disease. |
| Databáze: |
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| Externí odkaz: |
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