Fig 1.
Pedigree of and ARMC5 mutations in PBMAH family-1.
A, Pedigree of PBMAH family-1. B, The ARMC5 pathogenic germline mutation c.1855C>T (p.(Arg619*)) was detected in F1-II-5, the proband of PBMAH family-1. C, The secondary ARMC5 somatic mutation c.2599G>T (p.(Glu867*)) was detected in an adrenal nodule from F1-II-1. D, The adrenal CT scan of F1-II-1. The adrenal glands are circled by dashed lines. E, The ARMC5 germline mutation in F1-II-1. ‘M’ indicates family members with ARMC5 pathogenic germline mutations, whereas ‘WT’ indicates those without ARMC5 pathogenic germline mutations. The red arrows indicate the mutated sites in ARMC5 sequences. Pedigree numbers were not assigned to the family members who were not available for the study.
Table 1.
Clinical data for PBMAH family members.
Fig 2.
Pedigree of and ARMC5 mutations in PBMAH family-2.
A, Pedigree of PBMAH family-2. B, The ARMC5 pathogenic germline mutation c.2290C>T (p.(Arg764*)) was detected in F2-II-2, the proband of PBMAH family-2. C, The secondary ARMC5 somatic mutation c.1851delG (p.(His618Thrfs*12)) was detected in an adrenal nodule from F2-II-3. D, The adrenal CT scanning of F2-II-3. The right adrenal gland is circled by a dashed line. E, ARMC5 germline mutation in F2-II-3. ‘M’ indicates family members with ARMC5 pathogenic germline mutations, whereas ‘WT’ indicates those without ARMC5 germline mutations. The red arrow indicates the mutated site in the ARMC5 sequence. Pedigree numbers were not assigned to the family members who were not available in the study.
Fig 3.
Pedigree of and ARMC5 germline mutation in PBMAH family-3.
A, Pedigree of PBMAH family-3. B, The ARMC5 pathogenic germline mutation c.2189C>A (p.(Ser730*)) was detected in F3-II-2. ‘M’ indicates family members with ARMC5 pathogenic germline mutations, whereas ‘WT’ indicates those without ARMC5 pathogenic germline mutations. The red arrow indicates the mutated site in the ARMC5 sequence. Pedigree numbers were not assigned to he family members who were not available for the study.
Table 2.
Clinical data of sporadic PBMAH patients with ARMC5 pathogenic germline mutations.