Table 1.
Family ID | Phenotype in family members | Mutation analysis | |||||||
---|---|---|---|---|---|---|---|---|---|
Clinically affected | Skin eruptions | Renal tumors/cysts | Lung cysts/PSP | Gene | Exon | Nucleotide | Protein | Mutation type | |
1 | Proband | Yes | Yes | Yes | FLCN | 14 | c.1579_1580insA | p.R527QfsX75 | Insertion |
1 | Father | No | Yes | Yes | |||||
1 | Elder sister | No | Yes | Yes | |||||
1 | Sister | No | Yes | Yes | |||||
1 | Nephew | Yes | Yes | No | |||||
| |||||||||
2 | Proband | No | Yes | Yes | FLCN | 7 | c.668delA | p.N223Tfs∗19 | Deletion |
2 | Mother | No | Yes | Yes | |||||
2 | Brother | No | No | Yes |