Article: article from journal or magazin.
Evaluation of the ELOVL4 gene in patients with autosomal recessive retinitis pigmentosa and Leber congenital amaurosis
Journal Article Research Support, Non-U.S. Gov't Research Support, U.S. Gov't, P.H.S. --- Old month value: Feb 18
PURPOSE: 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.
Blindness/*genetics DNA Mutational Analysis DNA Primers/chemistry Eye Proteins/*genetics Humans Membrane Proteins/*genetics *Mutation, Missense Open Reading Frames/genetics Optic Atrophy, Hereditary, Leber/*genetics Polymerase Chain Reaction Polymorphism, Single-Stranded Conformational Retinitis Pigmentosa/*genetics Sequence Analysis, DNA
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