[PDF][PDF] Mutations in the cone photoreceptor G-protein α-subunit gene GNAT2 in patients with achromatopsia

S Kohl, B Baumann, T Rosenberg, U Kellner… - The American Journal of …, 2002 - cell.com
S Kohl, B Baumann, T Rosenberg, U Kellner, B Lorenz, M Vadala, SG Jacobson
The American Journal of Human Genetics, 2002cell.com
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 …
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.
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