title: Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia.
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 alpha-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.
authors.affiliation: Molekulargenetisches Labor, Universitäts-Augenklinik, Auf der Morgenstelle 15, D-72076 Tübingen, Germany.
authors.forename: Susanne
authors.initials: S
authors.lastname: Kohl
authors.forename: Britta
authors.initials: B
authors.lastname: Baumann
authors.forename: Thomas
authors.initials: T
authors.lastname: Rosenberg
authors.forename: Ulrich
authors.initials: U
authors.lastname: Kellner
authors.forename: Birgit
authors.initials: B
authors.lastname: Lorenz
authors.forename: Maria
authors.initials: M
authors.lastname: Vadalà
authors.forename: Samuel G
authors.initials: SG
authors.lastname: Jacobson
authors.forename: Bernd
authors.initials: B
authors.lastname: Wissinger
mesh_terms: D003117:Color Vision Defects / Q000209:etiology / Q000235:genetics*; D006801:Humans; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D017949:Retinal Cone Photoreceptor Cells / Q000378:metabolism*; D015293:Transducin / Q000235:genetics*
chemical_list: D015293:Transducin