Table 1.
No | Age (years) | Sex | Smoking history | Location | FLCN mutation | No. of tissue sections | No. of cysts | Other findings |
---|---|---|---|---|---|---|---|---|
1 | 38 | M | S | Exon 4 | c.119delG | 7 | 2 | |
2 | 38 | F | S | Exon 5 | c.328C>T | 1 | 1 | |
3 | 38 | F | S | Intron 5 | c.396 + 1G>A | 3 | 3 | |
4 | 29 | M | N | Intron 5 | c.397-2A>C | 8 | 1 | |
5 | 36 | F | U | Exon 6 | c.397-13_397-4delGGCCCTCCAG | 1 | 3 | |
6 | 37 | F | U | Exon 6 | c.402delC | 2 | 3 | |
7 | 39 | F | S | Exon 7 | c.769_771delTCC | 7 | 8 | |
8 | 40 | F | N | Exon 7 | c.769_771delTCC | 9 | 8 | |
9 | 47 | F | N | Exon 8 | c.853C>T | 7 | 1 | Fibrosis |
10 | 38 | F | N | Exon 9 | c.889_890delGA | 7 | 5 | |
12 | 48 | F | N | Exon 9 | c.932_933delCT | 6 | 3 | |
11 | 44 | F | N | Exon 9 | c.991_992dupTC | 10 | 11 | |
13 | 48 | M | N | Exon 9 | c.997_998delTC | 8 | 4 | |
14 | 34 | M | S | Intron 9 | c.1063-2A>G | 8 | 8 | Emphysema |
15 | 53 | F | N | Exon 10 | c.1063-10_1065delTCTTGTTTAGGTC | 5 | 6 | |
16 | 24 | F | S | Exon 11 | c.1285dupC | 6 | 1 | |
17 | 29 | M | S | Exon 11 | c.1285dupC | 4 | 2 | |
18 | 33 | F | N | Exon 11 | c.1285dupC | 7 | 1 | Granuloma |
19 | 35 | F | S | Exon 11 | c.1285dupC | 7 | 13 | |
20 | 35 | M | N | Exon 11 | c.1285dupC | 3 | 1 | |
21 | 38 | M | S | Exon 11 | c.1285dupC | 5 | 3 | |
22 | 39 | M | S | Exon 11 | c.1285dupC | 12 | 6 | |
23 | 41 | F | N | Exon 11 | c.1285dupC | 20 | 9 | |
24 | 43 | F | N | Exon 11 | c.1285dupC | 4 | 8 | |
25 | 47 | F | N | Exon 11 | c.1285dupC | 6 | 1 | |
26 | 50 | M | N | Exon 11 | c.1285dupC | 10 | 6 | |
27 | 62 | F | N | Exon 11 | c.1285dupC | 4 | 1 | |
28 | 64 | F | S | Exon 11 | c.1285dupC | 24 | 15 | Granuloma |
29 | 31 | F | N | Exon 12 | c.1347_1353dupCCACCCT | 5 | 4 | |
30 | 32 | M | U | Exon 12 | c.1347_1353dupCCACCCT | 3 | 7 | |
31 | 38 | F | N | Exon 12 | c.1347_1353dupCCACCCT | 15 | 5 | |
32 | 42 | F | S | Exon 12 | c.1347_1353dupCCACCCT | 7 | 8 | |
33 | 43 | F | S | Exon 12 | c.1347_1353dupCCACCCT | 7 | 5 | |
34 | 43 | F | N | Exon 12 | c.1347_1353dupCCACCCT | 5 | 6 | |
35 | 45 | F | N | Exon 12 | c.1347_1353dupCCACCCT | 8 | 4 | |
36 | 48 | M | S | Exon 12 | c.1347_1353dupCCACCCT | 6 | 4 | |
37 | 57 | F | N | Exon 12 | c.1347_1353dupCCACCCT | 5 | 4 | |
38 | 66 | F | N | Exon 12 | c.1347_1353dupCCACCCT | 4 | 2 | Emphysema |
39 | 46 | M | N | Exon 12 | c.1429C>T | 5 | 2 | |
40 | 32 | F | N | Intron 12 | c.1433-1G>T | 8 | 7 | |
46 | 43 | M | N | Exon 13 | c.1489_1490delGT | 4 | 1 | |
41 | 26 | F | S | Exon 13 | c.1533_1536delGATG | 1 | 1 | |
42 | 27 | M | S | Exon 13 | c.1533_1536delGATG | 5 | 1 | |
43 | 34 | M | N | Exon 13 | c.1533_1536delGATA | 15 | 6 | |
44 | 35 | M | S | Exon 13 | c.1533_1536delGATG | 21 | 8 | |
45 | 38 | M | N | Exon 13 | c.1533_1536delGATG | 4 | 3 | |
47 | 29 | M | N | Exon 14 | c.1539-?_c.1740 + ?del | 8 | 8 | |
48 | 46 | M | N | Exon 14 | c.1539-?_c.1740 + ?del | 6 | 6 | |
49 | 31 | F | N | Exons 9–14 | c.872-?_c.1740 + ?del | 6 | 2 | |
50 | 58 | F | N | Exons 9–14 | c.872-?_c.1740 + ?del | 1 | 1 |
N, never smoker; S, current smoker; U, unknown.