title: Null mutation in the human 11-cis retinol dehydrogenase gene associated with fundus albipunctatus.
abstract: OBJECTIVE
  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.
  
  
  METHODS
  Case-control molecular genetics study.
  
  
  METHODS
  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.
  
  
  METHODS
  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.
authors.affiliation: Department of Ophthalmology, University of Nijmegen, Nijmegen, The Netherlands. c.driessen@ohk.azn.nl
authors.forename: C A
authors.initials: CA
authors.lastname: Driessen
authors.forename: B P
authors.initials: BP
authors.lastname: Janssen
authors.forename: H J
authors.initials: HJ
authors.lastname: Winkens
authors.forename: L D
authors.initials: LD
authors.lastname: Kuhlmann
authors.forename: A H
authors.initials: AH
authors.lastname: Van Vugt
authors.forename: A J
authors.initials: AJ
authors.lastname: Pinckers
authors.forename: A F
authors.initials: AF
authors.lastname: Deutman
authors.forename: J J
authors.initials: JJ
authors.lastname: Janssen
mesh_terms: D000328:Adult; D000429:Alcohol Oxidoreductases / Q000235:genetics*; D001483:Base Sequence; D016022:Case-Control Studies; D002648:Child; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D015785:Eye Diseases, Hereditary / Q000235:genetics*; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D009755:Night Blindness / Q000201:enzymology / Q000235:genetics*; D009693:Nucleic Acid Hybridization; D010375:Pedigree
chemical_list: D000429:Alcohol Oxidoreductases; C022520:retinol dehydrogenase