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.

Kohl S., Baumann B., Rosenberg T., Kellner U., Lorenz B., Vadala' M., et al. (2002). Mutations in the cone photoreceptor G-protein α-subunit gene GNAT2 in patients with achromatopsia. AMERICAN JOURNAL OF HUMAN GENETICS, 71(2), 422-425 [10.1086/341835].

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

Vadala' M.;
2002-08-01

Abstract

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.
ago-2002
Kohl S., Baumann B., Rosenberg T., Kellner U., Lorenz B., Vadala' M., et al. (2002). Mutations in the cone photoreceptor G-protein α-subunit gene GNAT2 in patients with achromatopsia. AMERICAN JOURNAL OF HUMAN GENETICS, 71(2), 422-425 [10.1086/341835].
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10447/566443
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