[HTML][HTML] Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range
Abstract Purpose In some Huntington disease (HD) patients, the “loss of interruption”(LOI)
variant eliminates an interrupting codon in the HTT CAG-repeat tract, which causes earlier
age of onset (AOO). The magnitude of this effect is uncertain, since previous studies
included few LOI carriers, and the variant also causes CAG size misestimation. We
developed a rapid LOI detection screen, enabling unbiased frequency estimation among
manifest HD patients. Additionally, we combined published data with clinical data from …
variant eliminates an interrupting codon in the HTT CAG-repeat tract, which causes earlier
age of onset (AOO). The magnitude of this effect is uncertain, since previous studies
included few LOI carriers, and the variant also causes CAG size misestimation. We
developed a rapid LOI detection screen, enabling unbiased frequency estimation among
manifest HD patients. Additionally, we combined published data with clinical data from …