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

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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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
Series:Scientific Reports
Subjects:
RCCX modules
CYP21A2
Long read sequencing
21-hydroxylase deficiency
Online Access:https://doi.org/10.1038/s41598-025-03799-7
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https://doi.org/10.1038/s41598-025-03799-7

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