%0 Journal Article
%T The role of AGG interruptions in fragile X repeat expansions: a twenty-year perspective
%A Gary J. Latham
%A Sarah L. Nolin
%J Frontiers in Genetics
%D 2014
%I Frontiers Media
%R 10.3389/fgene.2014.00244
%X 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.
%K FMR1
%K fragile X syndrome
%K repeat expansion diseases
%K autism spectrum disorders
%K risk assessment
%K diagnostic tests
%U http://www.frontiersin.org/Journal/10.3389/fgene.2014.00244/abstract