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 2 amplicons of 8.5 Kb covering the centromeric and telomeric RCCX modules. The number of variants found varied between 3 and 106 and all expected pathogenic variants and new ones were obtained with the LR sequencing workflow developed. We defined with higher accuracy the breakpoints of the rearrangements allowing the reclassification of chimeras and/or converted genes in 18.75% of the samples, some of them with clinical implications. By addressing the study of the telomeric RCCX module/s in depth, we fo

SUBMITTER: Claps A 

PROVIDER: S-EPMC12246410 | biostudies-literature | 2025 Jul

REPOSITORIES: biostudies-literature