High precision characterization of RCCX rearrangements in a 21-hydroxylase deficiency Latin American cohort using oxford nanopore long read sequencing

Abstract The CYP21A2 gene, mapped to the RCCX module in 6p21.3, is responsible for 21-hydroxylase deficiency (21-HD). In this work, we leveraged Oxford Nanopore Technology (ONT) Long Read sequencing (LRS) to analyze samples from an Argentinian cohort of 21-HD. A total of 34 samples were sequenced in...

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Bibliographic Details

Published in:	Scientific Reports
Main Authors:	Aldana Claps, Jorge E. Kolomenski, Franco Fernández, Natalia Macchiaroli, Marina L. Ingravidi, Marisol Delea, Cecilia Fernández, Tania Castro, Julieta Laiseca, Laura Kamenetzky, Melisa Taboas, Liliana Dain
Format:	Article
Language:	English
Published:	Nature Portfolio 2025-07-01
Subjects:	RCCX modules CYP21A2 Long read sequencing 21-hydroxylase deficiency
Online Access:	https://doi.org/10.1038/s41598-025-03799-7