Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder.
Francesca MagrinelliClarissa RoccaRoberto SimoneRiccardo Zenezini ChiozziZane JaunmuktaneNiccolò Emanuele MencacciMichele TinazziSandeep JayawantAndrea H NemethGerman DemidovHenry HouldenKailash P BhatiaPublished in: Movement disorders : official journal of the Movement Disorder Society (2022)
We identified a de novo exonic AluYa5 insertion causing NKX2-1-related disorder in SS/WES/WGS-negative cases, suggesting that MEI analysis of short-read sequencing data or targeted long-read sequencing could unmask the molecular diagnosis of unsolved MD cases. © 2022 The Authors. Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.