Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder

Detection and Characterization of a De Novo Alu Retrotransposition Event Causing NKX2-1-Related Disorder
Mov Disord. 2022 Nov 23. doi: 10.1002/mds.29280. Online ahead of print.ABSTRACTBACKGROUND: 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 relatives with clinically suspected NKX2-1-related disorder who ... read more
Source: PubMedPublished on 2022-11-24By Francesca Magrinelli