The FRAXopathies: Definition, overview, and update

作者：Filomena Pirozzi, Elisabetta Tabolacci, Giovanni Neri · 发表于：American Journal of Medical Genetics Part A · 年份：2011 · DOI：10.1002/ajmg.a.34113 · 被引用次数：46 · 研究领域：Genetics and Neurodevelopmental Disorders、Genomic variations and chromosomal abnormalities、Endoplasmic Reticulum Stress and Disease

The fragile X syndrome, fragile X tremor ataxia syndrome, and premature ovarian insufficiency are conditions related to the X chromosome folate-sensitive fragile site FRAXA. Therefore, we propose that they are considered as a family of disorders under the general designation of FRAXopathies. The present review will outline the main clinical and molecular features of these disorders, with special emphasis on the pathogenic mechanisms that lead to distinct phenotypes, starting from related mutations. The understanding of these mechanisms is already generating promising therapeutic approaches.