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Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret form of congenital stationary night blindness

Nature Genetics volume 13, pages 358–360 (1996)Cite this article

Abstract

Patients with congenital stationary night blindness enjoy normal daytime vision, which is mediated by cone photoreceptors, but are blind when ambient light is so dim that a normal individual would utilize only rod photoreceptors to see without colour discrimination. The disease is genetically heterogeneous. One form of dominantly inherited congenital night blindness is eponymously named ‘Nougaret’ because pedigree analysis reveals that the disease originated in Jean Nougaret (1637–1719), a butcher who lived in Vendémian in southern France1–6. Here we report that his affected descendants carry a missense mutation in the gene encoding the a subunit of rod transducin — the G-protein that couples rhodopsin to cGMP-phosphodiesterase in the phototransduction cascade. Based on these results, rod transducin joins rhodopsin7,8 and the β subunit of rod cGMP-phosphodiesterase9 to become the third component of the rod phototransduction cascade where a defect is implicated as a cause of stationary night blindness. Interestingly, the amino acid residue in transducin affected by the Nougaret mutation is in the position homologous to that affected by the oncogenic mutation originally reported in p21ras, a distant relative in the G-protein superfamily.,

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Authors and Affiliations

  1. Ocular Molecular Genetics Institute and Taylor Smith Laboratory, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles St., Boston, Massachusetts, 02114-3096, USA

    Thaddeus P. Dryja & Lauri B. Hahn

  2. Service d'ophtalmologie, Centre Hospitaller Universitaire de Montpellier, Hôpital Guide Chauliac, 34295, Montpellier, Cedex 5, France

    Thierry Reboul & Bernard Arnaud

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  1. Thaddeus P. Dryja
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Correspondence to Thaddeus P. Dryja.

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Dryja, T., Hahn, L., Reboul, T. et al. Missense mutation in the gene encoding the α subunit of rod transducin in the Nougaret form of congenital stationary night blindness. Nat Genet 13, 358–360 (1996). https://doi.org/10.1038/ng0796-358

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