Diseases associated with mutations in CNGA3: Genotype-phenotype correlation and diagnostic guideline

Wenmin Sun; Qingjiong Zhang

doi:10.1016/bs.pmbts.2018.10.002

Diseases associated with mutations in CNGA3: Genotype-phenotype correlation and diagnostic guideline

Prog Mol Biol Transl Sci. 2019:161:1-27. doi: 10.1016/bs.pmbts.2018.10.002. Epub 2018 Nov 23.

Authors

Wenmin Sun¹, Qingjiong Zhang²

Affiliations

¹ State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.
² State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China. Electronic address: zhangqji@mail.sysu.edu.cn.

PMID: 30711023
DOI: 10.1016/bs.pmbts.2018.10.002

Abstract

Along with the molecular and functional characterization of CNGA3, knowledge about diseases associated with CNGA3 mutations has made great progress. So far, CNGA3 mutations are not only one of the most common causes of achromatopsia and cone dystrophy or cone-rod dystrophy but also one of the most commonly mutated genes among various forms of retinopathy. Understanding the clinical characteristics of CNGA3-associated retinal diseases may help clinical practice of infants or children with related diseases. Recognizing the importance of CNGA3 in inherited retinal diseases may enhance related research in searching for functional restoration or repair of CNGA3 defects.

Keywords: Achromatopsia; CNGA3; Cone-rod dystrophy; Diagnostic guideline; Mutation; Phenotype.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Cyclic Nucleotide-Gated Cation Channels / genetics*
Disease / genetics*
Genetic Association Studies
Genetic Predisposition to Disease*
Guidelines as Topic
Humans
Mutation / genetics*

Substances

CNGA3 protein, human
Cyclic Nucleotide-Gated Cation Channels