CYP11B1 and congenital adrenal hyperplasia: In the present study, we used our custom-designed target sequencing strategy to detect the point mutation and indel of CYP11B1 in parallel with genomic rearrangement for patients suspected to have CAH due to 11β-OHD, and both the coverage depth of paired-end reads and the breakpoint information of split reads from target sequencing data were analysed to detect genomic rearrangement covering CYP11B1. We identified three CAH patients due to CYP11B1 rearrangement, including one intragenic deletion, one intergenic deletion, and one previously reported chimeric CYP11B2/CYP11B1 gene.