title: Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis.
abstract: OBJECTIVE
  To determine whether pathogenic mutations exist in the ELOVL4 gene in patients with inherited retinal degenerations other than Stargardt-like macular dystrophy or other hereditary macular degenerations.
  
  
  METHODS
  All six exons comprising the open reading frame of the ELOVL4 gene were evaluated by single-strand conformation analysis, direct nucleotide sequencing, or both methods.
  
  
  RESULTS
  No pathogenic mutations were found among 84 patients with autosomal recessive retinitis pigmentosa or among 51 patients with Leber congenital amaurosis (congenital retinal blindness).
  
  
  CONCLUSIONS
  These data support the conclusion that recessive retinitis pigmentosa and Leber congenital amaurosis are rarely if ever associated with changes in the ELOVL4 gene.
authors.affiliation: Ocular Molecular Genetics Institute and the Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, MA 02114, USA.
authors.forename: Carlo
authors.initials: C
authors.lastname: Rivolta
authors.forename: Radha
authors.initials: R
authors.lastname: Ayyagari
authors.forename: Paul A
authors.initials: PA
authors.lastname: Sieving
authors.forename: Eliot L
authors.initials: EL
authors.lastname: Berson
authors.forename: Taddeus P
authors.initials: TP
authors.lastname: Dryja
mesh_terms: D001766:Blindness / Q000235:genetics*; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry; D005136:Eye Proteins / Q000235:genetics*; D006801:Humans; D008565:Membrane Proteins / Q000235:genetics*; D020125:Mutation, Missense; D016366:Open Reading Frames / Q000235:genetics; D029242:Optic Atrophy, Hereditary, Leber / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D012174:Retinitis Pigmentosa / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D017931:DNA Primers; C418975:ELOVL4 protein, human; D005136:Eye Proteins; D008565:Membrane Proteins