Kensuke Daida, Manabu Funayama, Kimberley J Billingsley, Laksh Malik, Abigail Miano-Burkhardt, Hampton L Leonard, Mary B Makarious, Hirotaka Iwaki, Jinhui Ding, J Raphael Gibbs, Mayu Ishiguro, Hiroyo Yoshino, Kotaro Ogaki, Genko Oyama, Kenya Nishioka, Risa Nonaka, Wado Akamatsu, Cornelis Blauwendraat, Nobutaka Hattori
BACKGROUND: Parkin RBR E3 ubiquitin-protein ligase (PRKN) mutations are the most common cause of young onset and autosomal recessive Parkinson's disease (PD). PRKN is located in FRA6E, which is one of the common fragile sites in the human genome, making this region prone to structural variants. However, complex structural variants such as inversions of PRKN are seldom reported, suggesting that there are potentially unrevealed complex pathogenic PRKN structural variants. OBJECTIVES: To identify complex structural variants in PRKN using long-read sequencing...
November 5, 2023: Movement Disorders: Official Journal of the Movement Disorder Society