AUTHOR=Latham Gary J. , Coppinger Justine , Hadd Andrew G. , Nolin Sarah L. TITLE=The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective JOURNAL=Frontiers in Genetics VOLUME=5 YEAR=2014 URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2014.00244 DOI=10.3389/fgene.2014.00244 ISSN=1664-8021 ABSTRACT=

In 1994, it was suggested that AGG interruptions affect the stability of the fragile X triplet repeat. Until recently, however, this hypothesis was not explored on a large scale due primarily to the technical difficulty of determining AGG interruption patterns of the two alleles in females. The recent development of a PCR technology that overcomes this difficulty and accurately identifies the number and position of AGGs has led to several studies that examine their influence on repeat stability. Here, we present a historical perspective of relevant studies published during the last 20 years on AGG interruptions and examine those recent publications that have refined risk estimates for repeat instability and full-mutation expansions.