Genotypes and phenotypes of genes associated with achromatopsia: A reference for clinical genetic testing.

ABSTRACT:

Purpose

Achromatopsia is a congenital autosomal recessive cone disorder, and it has been found to be associated with six genes. However, pathogenic variants in these six genes have been identified in patients with various retinal dystrophies with the exception of achromatopsia. Thus, this study aims to investigate the contribution of these genes in hereditary retinal diseases and the potential genotype-phenotype correlations.

Methods

Biallelic variants in six achromatopsia-related genes, namely, CNGA3, CNGB3, GNAT2, ATF6, PDE6C, and PDE6H, were analyzed based on data obtained from 7,195 probands with different eye conditions. A systematic genotype-phenotype analysis of these genes was performed based on these data, along with the dat

SUBMITTER: Sun W 

PROVIDER: S-EPMC7479066 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature