Fraxopathies by Filomena

23e0736The 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.