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Mutations in the Cone Photoreceptor G-Protein α-Subunit Gene GNAT2 in Patients with Achromatopsia

By Susanne Kohl, Britta Baumann, Thomas Rosenberg, Ulrich Kellner, Birgit Lorenz, Maria Vadalà, Samuel G. Jacobson and Bernd Wissinger


Achromatopsia is an autosomal recessively inherited visual disorder that is present from birth and that features the absence of color discrimination. We here report the identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13. GNAT2 encodes the cone photoreceptor–specific α-subunit of transducin, a G-protein of the phototransduction cascade, which couples to the visual pigment(s). Our results demonstrate that GNAT2 is the third gene implicated in achromatopsia

Topics: Report
Publisher: The American Society of Human Genetics
Year: 2002
DOI identifier: 10.1086/341835
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Provided by: PubMed Central
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