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

Philip J Rosenfeld, Glenn S. Cowley, Terri L. McGee, Michael A. Sandberg, Eliot L. Berson, Thaddeus P. Dryja

Research output: Contribution to journalArticle

302 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)209-213
Number of pages5
JournalNature Genetics
Volume1
Issue number3
StatePublished - Dec 1 1992
Externally publishedYes

Fingerprint

Retinal Rod Photoreceptor Cells
Retinitis Pigmentosa
Rhodopsin
Mutation
Genes
Retinaldehyde
Retinal Degeneration
Nonsense Codon
Codon
Exons
Proteins

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Rosenfeld, P. J., Cowley, G. S., McGee, T. L., Sandberg, M. A., Berson, E. L., & Dryja, T. P. (1992). A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. Nature Genetics, 1(3), 209-213.

A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. / Rosenfeld, Philip J; Cowley, Glenn S.; McGee, Terri L.; Sandberg, Michael A.; Berson, Eliot L.; Dryja, Thaddeus P.

In: Nature Genetics, Vol. 1, No. 3, 01.12.1992, p. 209-213.

Research output: Contribution to journalArticle

Rosenfeld, PJ, Cowley, GS, McGee, TL, Sandberg, MA, Berson, EL & Dryja, TP 1992, 'A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa', Nature Genetics, vol. 1, no. 3, pp. 209-213.
Rosenfeld, Philip J ; Cowley, Glenn S. ; McGee, Terri L. ; Sandberg, Michael A. ; Berson, Eliot L. ; Dryja, Thaddeus P. / A null mutation in the rhodopsin gene causes rod photoreceptor dysfunction and autosomal recessive retinitis pigmentosa. In: Nature Genetics. 1992 ; Vol. 1, No. 3. pp. 209-213.
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