From: Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene
Number | Family | Sex | Age | Pneumothorax | Pulmonary Cysts | Skin lesion | Kidney lesion | Mutation Region |
---|---|---|---|---|---|---|---|---|
III8 | F1 | Female | 53 | Yes | Yes | Subcutaneous nodule | No | Exon 14 |
III12 | F1 | Female | 48 | Yes | Yes | No | Renal cysts | Exon 14 |
III14 | F1 | Female | 47 | Yes | Yes | No | No | Exon 14 |
IV1 | F1 | Male | 28 | Yes | No | Fat granules | No | Exon 14 |
IV3 | F1 | Male | 21 | Yes | Yes | No | No | Exon 14 |
IV4 | F1 | Female | 18 | No | No | No | No | Exon 14 |
II1 | F2 | Male | 52 | Yes | Yes | No | No | Exon 7 |
III2 | F2 | Male | 26 | Yes | Yes | No | No | Exon 7 |