与 CNGA3 基因突变相关的疾病：基因型-表型相关性和诊断指南。
Diseases associated with mutations in CNGA3: Genotype-phenotype correlation and diagnostic guideline.
机构信息
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.
出版信息
Prog Mol Biol Transl Sci. 2019;161:1-27. doi: 10.1016/bs.pmbts.2018.10.002. Epub 2018 Nov 23.
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.
随着 CNGA3 的分子和功能特征的阐明，与 CNGA3 突变相关疾病的知识已经取得了很大的进展。到目前为止，CNGA3 突变不仅是色盲和 cones 营养不良或 cones-rod 营养不良的最常见原因之一，也是各种形式的视网膜病变中最常突变的基因之一。了解与 CNGA3 相关的视网膜疾病的临床特征可能有助于对相关疾病的婴儿或儿童的临床实践。认识到 CNGA3 在遗传性视网膜疾病中的重要性可能会促进寻找 CNGA3 缺陷的功能恢复或修复的相关研究。
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