Twists and turns of the genetic story of mevalonate kinase-associated diseases:A review  

作　　者：Isabelle Touitou 

机构地区：[1]IRMB,Univ Montpellier,INSERM,Montpellier 34090,France [2]Department of Medical Genetics,Rare Diseases and Personalized Medicine,Rare and Autoinflammatory Diseases Unit,CeRéMAIA,CHU,Montpellier 34000,France

出　　处：《Genes & Diseases》2022年第4期1000-1007,共8页基因与疾病（英文）

摘　　要：Mevalonate kinase (MK)-associated diseases encompass a broad spectrum of rare auto-inflammatory conditions, all resulting from pathogenic variants in the mevalonate kinase gene (MVK). Their clinical manifestations are highly variable, ranging from more or less serious systemic disorders, such as hereditary recurrent fevers, to purely localized pathologies such as porokeratosis. The oldest condition identified as linked to this gene is a metabolic disease called mevalonic aciduria, and the most recent is disseminated superficial actinic porokeratosis, a disease limited to the skin. The modes of inheritance of MK-associated diseases also diverge among the different subtypes: recessive for the systemic subtypes and dominant with a post-zygotic somatic genetic alteration for MVK-associated porokeratosis. This review quickly retraces the historical steps that led to the description of the various MK-associated disease phenotypes and to a better understanding of their pathophysiology, then summarizes and compares the different genetic mechanisms involved in this group of disorders, and finally discusses the diverse causes that could underlie this phenotypic heterogeneity.

关 键 词：Autoinflammatory disease Genetic disease Meval onate kinase deficiency POROKERATOSIS SUBTYPES 

分 类 号：R596[医药卫生—内科学]