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CUGC 治疗后弹力层营养不良（PPCD）。

CUGC for posterior polymorphous corneal dystrophy (PPCD).

机构信息

UCL Institute of Ophthalmology, London, EC1V 9EL, UK.

First Faculty of Medicine, Research Unit for Rare Diseases, Department of Paediatrics and Adolescent Medicine, Charles University and General University Hospital in Prague, Ke Karlovu 2, 128 08, Prague 2, Czech Republic.

出版信息

Eur J Hum Genet. 2020 Jan;28(1):126-131. doi: 10.1038/s41431-019-0448-8. Epub 2019 Jun 14.

DOI:10.1038/s41431-019-0448-8
PMID:31201376
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6906511/
Abstract

Name of the disease (synonyms) CUGC for posterior polymorphous corneal dystrophy (PPCD).OMIM# of the disease 122000; 609141; 618031.Name of the analysed genes or DNA/chromosome segments OVOL2 (PPCD1); ZEB1 (PPCD3); GRHL2 (PPCD4).OMIM# of the gene(s) 616441; 189909; 608576. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in theOVOL2, ZEB1andGRHL2gene(s) in a diagnostic setting, predictive and parental settings and for risk assesment in relatives.

摘要

疾病名称（同义词） 后多形性角膜营养不良（PPCD）的 CUGC。 疾病的 OMIM# 122000；609141；618031。 分析的基因或 DNA/染色体片段名称 OVOL2（PPCD1）；ZEB1（PPCD3）；GRHL2（PPCD4）。 基因（s）的 OMIM# 616441；189909；608576。 在诊断、预测和父母设置以及亲属风险评估中，对 OVOL2、ZEB1 和 GRHL2 基因（s）中变体的基于 DNA 的检测的分析和临床有效性以及临床实用性进行综述。

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Ectopic GRHL2 Expression Due to Non-coding Mutations Promotes Cell State Transition and Causes Posterior Polymorphous Corneal Dystrophy 4.
Am J Hum Genet. 2018 Mar 1;102(3):447-459. doi: 10.1016/j.ajhg.2018.02.002.
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Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1.
PLoS One. 2017 Jan 3;12(1):e0169215. doi: 10.1371/journal.pone.0169215. eCollection 2017.
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Autosomal-Dominant Corneal Endothelial Dystrophies CHED1 and PPCD1 Are Allelic Disorders Caused by Non-coding Mutations in the Promoter of OVOL2.
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Further genetic and clinical insights of posterior polymorphous corneal dystrophy 3.
JAMA Ophthalmol. 2013 Oct;131(10):1296-303. doi: 10.1001/jamaophthalmol.2013.405.
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