Research Article
Detection of Folliculin Gene Mutations in Two Chinese Families with Birt-Hogg-Dube Syndrome
Table 1
The clinic and genetic summary of these two families.
| 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.N223Tfs19 | Deletion | 2 | Mother | No | Yes | Yes | 2 | Brother | No | No | Yes |
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