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=Volume 5 - 2014

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 twenty years on AGG interruptions and examine those recent publications that have refined risk estimates for repeat instability and full mutation expansions.