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Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus.

AbstractPURPOSE:
Recent studies show that mutations in the gene encoding 11-cis retinol dehydrogenase are associated with fundus albipunctatus. The authors wanted to investigate whether additional, more severe, mutations in the 11-cis retinol dehydrogenase gene might be responsible for more severe forms of hereditary retinal diseases.
DESIGN:
Case-control molecular genetics study.
PARTICIPANTS AND CONTROLS:
Two index patients, 7 relatives, and 50 control individuals.
METHODS:
The authors screened two index patients diagnosed with fundus albipunctatus for mutations in exons 2 to 5 and exon/intron boundaries of the 11-cis retinol dehydrogenase gene by direct sequencing. Control individuals were screened for the presence of the mutations using allele-specific oligonucleotide hybridization.
MAIN OUTCOME MEASURES:
Mutations in exons 2 to 5 and exon/intron boundaries of the 11-cis retinol dehydrogenase gene.
RESULTS:
In a compound heterozygote, two novel mutations were found: a 4 bp insertion in exon 2 and a missense mutation Cys267Trp in exon 5. In a second pedigree, a homozygous frameshift mutation in codon 43 (Arg42ct[1-bpdel]) was detected. In both families, the mutations segregate with the disease. The mutations were not found in 50 control individuals.
CONCLUSIONS:
On the basis of our observations, it is unlikely that mutations in the 11-cis retinol dehydrogenase gene are associated with other, possibly more severe, retinal pathologic conditions/dystrophies or syndromic diseases in which the retina is also affected.
AuthorsC A Driessen, B P Janssen, H J Winkens, L D Kuhlmann, A H Van Vugt, A J Pinckers, A F Deutman, J J Janssen
JournalOphthalmology (Ophthalmology) Vol. 108 Issue 8 Pg. 1479-84 (Aug 2001) ISSN: 0161-6420 [Print] United States
PMID11470705 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Alcohol Oxidoreductases
  • retinol dehydrogenase
Topics
  • Adult
  • Alcohol Oxidoreductases (genetics)
  • Base Sequence
  • Case-Control Studies
  • Child
  • DNA Mutational Analysis
  • Exons (genetics)
  • Eye Diseases, Hereditary (genetics)
  • Female
  • Fundus Oculi
  • Humans
  • Molecular Sequence Data
  • Mutation
  • Night Blindness (enzymology, genetics)
  • Nucleic Acid Hybridization
  • Pedigree

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