High-fidelity long-read sequencing reveals a complex RCCX locus at the single-nucleotide level in Korean patients with congenital adrenal hyperplasia

2025-07-11 genetic and genomic medicine Title + abstract only

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BackgroundThe RCCX locus, resulting from segmental duplication, exhibits extensive sequence identity and modular variations because of unequal crossover events, leading to copy number variations and the formation of chimeric genes between active and pseudogenes. Precise characterization of this locus is essential for molecular diagnosis, because aberrations within this region can cause congenital adrenal hyperplasia (CAH), an autosomal recessive disorder. However, the intricate modular structure...

High-fidelity long-read sequencing reveals a complex RCCX locus at the single-nucleotide level in Korean patients with congenital adrenal hyperplasia

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