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 Houlden Kailash P Bhatia

Published 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.

Keyphrases

single molecule
single cell
randomized controlled trial
molecular dynamics
systematic review
drug delivery
loop mediated isothermal amplification
drug induced