Fig. 1

Clinical data and gene mutations of the proband and his family. a Physical examination results for the proband. b Radiograph of left wrist and knee. c Abdominal CT scan of the proband, with and without contrast enhancement. Arrow shows the bilateral adrenal lesions. d The sequencing chromatogram near the mutation in proband. Box indicates the mutation location. e Three-dimensional structure of wild-type CYP11B1 (CYP11B1wild) and the CYP11B1 mutant (CYP11B1mut) after 100 ns simulation based on bioinformatics and the molecular dynamics simulation. f Chart of root mean square deviation (RMSD) calculations for both CYP11B1wild and CYP11B1mut in the molecular dynamics simulation. g The sequencing chromatogram on both sides of the mutation in the proband’s parents. The box indicates the mutation location. h Electrophoretogram (on a 1% agarose gel) of PCR products obtained from control, proband and proband relatives using mixed primers. The arrow shows the 1649 base pair DNA fragment of the CYP11B2/CYP11B1 chimera. i The nucleotide sequence neighboring the crossover site of the chimeric CYP11B2/CYP11B1 gene based on multiple sequence alignment. The asterisk, triangle and red line represent a single nucleotide polymorphism, p.L340P and the possible breakpoint regions, respectively. j A schematic representation of genotype for the proband, the CYP11B2 gene (exons displayed as black boxes), the CYP11B1 gene (exons displayed as gray boxes) and the hybrid gene with the breakpoint localized in the junctional zone of exon 6 and intron 6. k The pedigree of all family members investigated for the missense mutation (M) and the chimeric gene (C)