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

被引：205

作者：

Kohl, S

Baumann, B

Rosenberg, T

Kellner, U

Lorenz, B

Vadalà, M

Jacobson, SG

Wissinger, B

机构：

[1] Univ Tubingen, Augenklin, Mol Genet Lab, D-72076 Tubingen, Germany

[2] Natl Eye Clin Visually Impaired, Copenhagen, Denmark

[3] Free Univ Berlin, Univ Klinikum Benjamin Franklin, D-1000 Berlin, Germany

[4] Univ Regensburg Klinikum, Dept Pediat Ophthalmol & Ophthalmogenet, Regensburg, Germany

[5] Univ Palermo, Clin Oculist, Palermo, Italy

[6] Univ Penn, Scheie Eye Inst, Philadelphia, PA 19104 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2002年 / 71卷 / 02期

关键词：

D O I：

10.1086/341835

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

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.

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页码：422 / 425

页数：4

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