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. 2014 Mar 4;65(1):100–110. doi: 10.1111/his.12368

Table 1.

Summary of Birt–Hogg–Dubé syndrome cases

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.