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The FRAXopathies: Definition, overview, and update
Author(s) -
Pirozzi Filomena,
Tabolacci Elisabetta,
Neri Giovanni
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34113
Subject(s) - fragile x syndrome , chromosomal fragile site , fragile x , ataxia , genetics , clinical phenotype , medicine , bioinformatics , biology , phenotype , neuroscience , chromosome , gene
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. © 2011 Wiley‐Liss, Inc.