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TY - JOUR AU - Rosenfeld, Philip J. AU - Cowley, Glenn S. AU - McGee, Terri L. AU - Sandberg, Michael A. AU - Berson, Eliot L. AU - Dryja, Thaddeus P. PY - 1992 DA - 1992/06/01 TI - A Null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa JO - Nature Genetics SP - 209 EP - 213 VL - 1 IS - 3 AB - 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. SN - 1546-1718 UR - https://doi.org/10.1038/ng0692-209 DO - 10.1038/ng0692-209 ID - Rosenfeld1992 ER -