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

306 Scopus citations

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 (US)
Pages (from-to)209-213
Number of pages5
JournalNature genetics
Volume1
Issue number3
DOIs
StatePublished - Jun 1992
Externally publishedYes

ASJC Scopus subject areas

  • Genetics

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