Article
Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder.
Movement disorders : official journal of the Movement Disorder Society - 1 Feb 2023
Magrinelli Francesca, Rocca Clarissa, Simone Roberto, Zenezini Chiozzi Riccardo, Jaunmuktane Zane, Mencacci Niccolò E, Tinazzi Michele, Jayawant Sandeep, Nemeth Andrea H, Demidov German, Houlden Henry, Bhatia Kailash P
Abstract excerpt
BACKGROUND: Heterozygous NKX2-1 loss-of-function variants cause combinations of hyperkinetic movement disorders (MDs, particularly childhood-onset chorea), pulmonary dysfunction, and hypothyroidism. Mobile element insertions (MEIs) are potential disease-causing structural variants whose detection in routine diagnostics remains challenging. OBJECTIVE: To establish the molecular diagnosis of two first-degree...
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