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

Wenmin Sun, Qingjiong Zhang

Journal: Progress in molecular biology and translational science 2019;161():1-27

PMID: 30711023

Full Text on Elsevier Science View on PubMed

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.

Address: State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China.; State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou, China. Electronic address: [email protected].

DOI: 10.1016/bs.pmbts.2018.10.002

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MeSH Terms: Cyclic Nucleotide-Gated Cation Channels, Disease, Genetic Association Studies, Genetic Predisposition to Disease, Guidelines as Topic, Humans, Mutation