Table 1 Clinical and genetic characteristics of patients with AIP rare sequence variants
From: Low frequency of AIP mutations in patients with young-onset sporadic pituitary macroadenomas
Patient number | Sex | Age at diagnosis (yr) | Type of adenoma | Size of adenoma (mm) | Variant (nucleotide, protein level) (a) | GnomAD allele frequency | ACMG classification (criteria) (b) | Previously reported |
|---|---|---|---|---|---|---|---|---|
Pathogenic and likely pathogenic variants | ||||||||
1 | F | 20 | GH-secreting | 20 | c.158_165delGCCGGGCT, p.Ser53Thrfs*36 | 0 | LP (PVS1, PM2) | No |
2 | M | 22 | GH-secreting | 26 | c.241C>T, p.Arg81* | 0 | P (PVS1, PP5, PM2) | Yes [7] |
3 | M | 14 | GH/PRL-secreting | 14 | c.343delC, p.Leu115Trpfs*41 | 0 | LP (PVS1, PM2) | Yes [28] |
4 | F | 25 | GH-secreting | 28 | c.736G>T, p.Glu246* | 0 | LP (PVS1, PM2) | No |
Benign variants | ||||||||
5 | M | 18 | PRL-secreting | >10 | c.47G>A, p.Arg16His | 0.0020820 | B (BS1, BS2, BP1, BP4, BP6) | Yes [35] |
6 | F | 20 | GH-secreting | 34 | c.132C>T, p.Asp44Asp | 0.0079840 | B (BA1, BP4, BP6, BP7) | Yes [36] |
7 | M | 33 | GH/PRL/FSH/LH-secreting | >10 | c.132C>T, p.Asp44Asp | 0.0079840 | B (BA1, BP4, BP6, BP7) | Yes [36] |
8 | F | 37 | PRL-secreting | 20 | c.132C>T, p.Asp44Asp | 0.0079840 | B (BA1, BP4, BP6, BP7) | Yes [36] |
9 | F | 40 | PRL-secreting | 31 | c.132C>T, p.Asp44Asp | 0.0079840 | B (BA1, BP4, BP6, BP7) | Yes [36] |
10 | F | 40 | GH-secreting | 27 | c.753G>A, p.Leu251Leu | 0.0001757 | B (BS1, BS2, BP4, BP7) | Yes [37] |
c.*14C>A | 0.0004049 | B (BS1, BS2, BP4) | ||||||
11 | F | 28 | ACTH-secreting | 11 | c.891C>A, p.Ala297Ala | 0.0018130 | B (BS1, BS2, BP4, BP6, BP7) | |
c.*64G>A | 0.0054470 | B (BS1, BS2, BP4, BP6) | ||||||
12 | F | 17 | PRL-secreting | >10 | c.896C>T, p.Ala299Val | 0.0005441 | B (BS1, BS2, BP1, BP4) | Yes [39] |
13 | F | 26 | PRL-secreting | 12 | c.896C>T, p.Ala299Val | 0.0005441 | B (BS1, BS2, BP1, BP4) | Yes [39] |
14 | F | 30 | PRL-secreting | 15 | c.896C>T, p.Ala299Val | 0.0005441 | B (BS1, BS2, BP1, BP4) | Yes [39] |
15 | F | 36 | ACTH-secreting | 14 | c.896C>T, p.Ala299Val | 0.0005441 | B (BS1, BS2, BP1, BP4) | Yes [39] |
16 | M | 37 | GH-secreting | >10 | c.896C>T, p.Ala299Val | 0.0005441 | B (BS1, BS2, BP1, BP4) | Yes [39] |
17 | M | 28 | PRL-secreting | >40 | c.*60G>C | 0.0078700 | B (BS1, BS2, BP4, BP6) | Yes [40] |
18 | M | 29 | PRL-secreting | 26 | c.*60G>C | 0.0078700 | B (BS1, BS2, BP4, BP6) | Yes [40] |