A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa

PJ Rosenfeld, GS Cowley, TL McGee, MA Sandberg… - Nature …, 1992 - nature.com
PJ Rosenfeld, GS Cowley, TL McGee, MA Sandberg, EL Berson, TP Dryja
Nature genetics, 1992nature.com
Mutations within the rhodopsin gene are known to give rise to autosomal dominant retinitis
pigmentosa (RP), a common hereditary form of retinal degeneration. We now describe a
patient with autosomal recessive RP who is homozygous for a nonsense mutation at codon
249 within exon 4 of the rhodopsin gene. This null mutation, the first gene defect identified in
autosomal recessive retinitis pigmentosa, should result in a functionally inactive rhodopsin
protein that is missing the sixth and seventh transmembrane domains including the 11–cis …
Abstract
Mutations within the rhodopsin gene are known to give rise to autosomal dominant retinitis pigmentosa (RP), a common hereditary form of retinal degeneration. We now describe a patient with autosomal recessive RP who is homozygous for a nonsense mutation at codon 249 within exon 4 of the rhodopsin gene. This null mutation, the first gene defect identified in autosomal recessive retinitis pigmentosa, should result in a functionally inactive rhodopsin protein that is missing the sixth and seventh transmembrane domains including the 11–cis–retinal attachment site. We also found a different null mutation carried heterozygously by an unrelated unaffected individual. Heterozygous carriers of either mutation had normal ophthalmologic examinations but their electroretinograms revealed an abnormality in rod photoreceptor function.
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