Frequency of the loss of CAA interruption in the HTT CAG tract and implications for Huntington disease in the reduced penetrance range.
Hailey Findlay BlackGalen E B WrightJennifer A CollinsNicholas CaronChris KayQingwen XiaLarissa ArningEmilia K BijlsmaFerdinando SquitieriHuu Phuc NguyenMichael R HaydenPublished in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)
The LOI causes significantly earlier onset, greater than expected by CAG length, particularly in persons with 36-39 CAG repeats. Detection of this variant has implications for HD families, especially for those in the RP range.