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. 2022 Jun 10;50(11):6343–6367. doi: 10.1093/nar/gkac483

Table 1.

Clinical information and genotype of the Adelaide cohort

Patient ID Age at operation Gender Diagnosis Histopathology Germline ARMC5 mutation status
III-1 69 M Cushing's due to PBMAH PBMAH Chr16:g.31476121; c.1777C→T; p.(R593W)
III-2 62 M Cushing's due to PBMAH PBMAH Chr16:g.31476121; c.1777C→T; p.(R593W)
III-3 66 M Cushing's due to PBMAH PBMAH Chr16:g.31476121; c.1777C→T; p.(R593W)
CS-01 39 F Cushing's syndrome Adrenal adenoma not tested
CS-02 48 F Cushing's syndrome Adrenal adenoma not tested
PA-01 57 M Primary aldosteronism Adrenal adenoma not tested
PA-02 76 M Primary aldosteronism Adrenal hyperplasia - micro- and macronodular not tested
PA-03 50 M Primary aldosteronism Adrenal hyperplasia - micro- and macronodular not tested
N-1 50 M normal adrenal gland a N/A not tested
N-2 unknown M normal adrenal gland b N/A not tested

For RPB1 expression analysis, PBMAH macronodules were obtained from resected adrenal glands of PBMAH patients with germline ARMC5 mutations. Adrenal gland adenomas and adrenocortical carcinoma tissues not known to have ARMC5 mutations were used as controls. The clinical diagnosis and histopathology of the patients are indicated. aThe normal adrenal gland of patient N-1 was obtained from normal tissues adjacent to the adrenal gland adenoma of patient PA-03. bNormal adrenal gland N-2 was obtained from a patient undergoing nephrectomy for renal cell carcinoma. PBMAH: primary bilateral macronodular adrenal gland hyperplasia. N/A: not applicable.