Table 1. ARMC5 mutations identified in blood samples and adrenal tissue from the patients diagnosed with PMAH.
| Patient | Age | Gender | Group | Type of Mutation | |
|---|---|---|---|---|---|
|
| |||||
| Blood | Adrenal Tissue | ||||
| 1 | 63 | F | G | c.476 -1G>C (het) | c.476 -1G>C (het) |
| 2 | 56 | F | G | c.1158G>A; p.Trp386* (het) | c.1158G>A; p.Trp386* (het) |
| 3 | 52 | M | G | c.280_281delTC, p.Ser94Valfs*8 (het) | c.280_281delTC, p.Ser94Valfs*8 (het) |
| 4 | 41 | F | G | c.170_171insA, I58Nfs*45 (het) | c.170_171insA, I58Nfs*45 (het) |
| 5 | 47 | F | G | c.799C>T, p.Arg267*, rs369721476 (het) | c.799C>T, p.Arg267*, rs369721476 (het) |
| 6 | 49 | F | G S | c.1181T>C, p.Leu394Prol (het) | c.1181T>C, p.Leu394Prol (het) c.1559_1559delG; Gly520Aspfs*24 (het) |
| 7 | 45 | F | G S | c.170_171insG, Ile58Asnfs*45 (het) | c.170_171insG, Ile58Asnfs*45 (het) Loss of heterozygosity (LOH) |
| 8 | 45 | M | G S | c.2423A>C, p.His808Pro (het) | c.2423A>C, p.His808Pro (het) c.283_295delTCGGCCGCGTCGGG,p.Ser95Serfs*2 (het) |
| 9 | 45 | F | G S | c.165_166insG, p.Ile58Asnfs*45, (het) | c.165_166insG, p.Ile58Asnfs*45, (het) c.2082_2088delCCCGCTC,p.Pro695Serfs*20, (het) |
| 10 | 68 | F | G S | c.1960C>T, p.Arg654*, (het) | c.1960C>T, p.Arg654*, (het) c.294_294delG; p.Gly99Glufs*38 (het) |
| 11 | 53 | F | NM | ||
| 12 | 50 | F | NM | ||
| 13 | 50 | M | NM | ||
| 14 | 69 | F | NM | ||
| 15 | 61 | F | NM | ||
| 16 | 59 | F | NM | ||
PMAH: primary macronodular adrenal hyperplasia; G: germline; S: somatic; het: hetero; NM: non-mutated.