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Article

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene.

Journal of human genetics - 1 Jan 2011

Ouechtati Farah, Merdassi Ahlem, Bouyacoub Yosra, Largueche Leila, Derouiche Kaouther, Ouragini Houyem, Nouira Sonia, Tiab Leila, Baklouti Karim, Rebai Ahmed, Schorderet Daniel F, Munier Francis L, Zografos Leonidas, Abdelhak Sonia, El Matri Leila

Abstract excerpt

Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations. This retinal disorder is characterized by complete loss of color discrimination due to the absence or alteration of the cones function. The purpose of the present study was the clinical and the genetic characterization of achromatopsia in a large consanguineous Tunisian family. Ophthalmic...

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Source

Identifiers

PMID: 21107338
DOI: 10.1038/jhg.2010.128

Genes

GNAT2
CNGA3
CNGB3

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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