Table 1.
Summary of germline FLCN deletions/duplication and BHDS family phenotype
| Patient | Family | FLCN region | Deletion/Duplication Nucleotide (protein) | Size (bp) | Phenotype |
|---|---|---|---|---|---|
| 1 | A | Exons 2–5 | c.-227-853_c.397-295del | 9189 | FF, 2 LC, hypothyroidism |
| 2 | B | Exons 7–14 | c.675-?_c.*+?del | ND | FF |
| 3 | B | Exons 7–14 | c.675-?_c.*+?del | ND | FF |
| 4 | C | Exon 1 | chr17:17078506_17084897del | 6391 | PFF, BMF kidney (chromophobe) |
| 5 | D | Exon 1 | chr17:17080610_17086298del; insCCATGGGGG | 5688 | FF, LC, benign solitary thyroid nodule |
| 6 | D | Exon 1 | chr17:17080610_17086298del; insCCATGGGGG | 5688 | FF, LC |
| 7 | E | Exon 1 | chr17:17080497_17087267del; 17084378_17084502invins | 6645 | FF, LC |
| 8 | E | Exon 1 | chr17:17080497_17087267del; 17084378_17084502invins | 6645 | FF, LC |
| 9 | F | Exon 1 | ND | ND | FF, LC, 3PT, hypothyroidism |
| 10 | G | Exons 10–11 | c.1063-154_1300+410dup (p.Glu434GlyfsX35) | 1341 | FF, BMF kidney (chromophobe) |
| 11 | G | Exons 10–11 | c.1063-154_1300+410dup (p.Glu434GlyfsX35) | 1341 | FF, LC, BMF kidney, papillary thyroid cancer |
ND=not determined;
*
termination codon; FF= fibrofolliculomas; LC= lung cysts; PFF= perifollicular fibroma; BMF= bilateral multifocal; PT=pneumothorax. For families A, B and G, GenBank Accession: NM_144997.5. For families C, D, and E, coordinates are based on the March 2006 human reference sequence (NCBI Build 36.1/hg18). Family F was not mapped.