TABLE 1.
Previous and present reported FLCN intragenic deletions/duplications.
| References | cDNA change | Deleted exon(s) | Detection method | Breakpoint detected (yes/no) | Deletion size (bp) | Clinical manifestations | |
| (1) | Kunogi et al., 2010 | c.872−?_1740+?del | Exon 9–14 del | qPCR | No | – | PTX |
| c.1539−?_c.1740+?del | Exon 14 del | qPCR | No | – | PTX | ||
| (2) | Sempau et al., 2010 | c.1539−?_c.1740+?del | Exon 14 del | MLPA | No | – | PTX, FF, RCC |
| (3) | Benhammou et al., 2011 | c. −227–853_c.397–295del | Exons 2–5 del | qPCR, MLPA, aCGH | Yes, flanked by AluSq and AluSx | 9,189 | FF, LC |
| c.619−?_c.1740+?del | Exons 7–14 del | qPCR, MLPA, aCGH | No | – | FF | ||
| c.−4174_−227–1566del | Exon 1 del | qPCR, MLPA, aCGH | Yes, flanked by AluY and AluSx | 6,391 | Perifollicular fibroma, RCC | ||
| c.−5575_−228+341delins CCCCCATGG | Exon 1 del | qPCR, MLPA, aCGH | Yes, not flanked by Alu | 5,688 | FF, LC | ||
| c.−6544_−228+454delins −3779_−3655inv | Exon 1 del | qPCR, MLPA, aCGH | Yes, partially Alu-mediated, AluY and AluSg | 6,645 | FF, LC | ||
| c. −?_−227−?del | Exon 1 del | qPCR, MLPA, aCGH | No | – | FF, LC, PTX | ||
| c.1063–154_1300+410dup | Exons 10–11 dup | qPCR, MLPA, aCGH | Yes, not flanked by Alu | 1,341 | FF, LC, RCC | ||
| (4) | Houweling et al., 2011 | c.250−?_c.1740+?del | Exons 5–14 del | MLPA | No | – | PTX |
| c.1301−?_c.1740+?del | Exons 12–14 del | MLPA | No | – | PTX | ||
| (5) | Babaei Jandaghi et al., 2013 | c. −?_−227−?del | Exon 1 del | qPCR | No | – | PTX, RCC |
| (6) | Ding et al., 2015 | c. −504−1303_−25+845del | Exons 1–3 del | MLPA | Yes, flanked by Alu-Sc and Alu-Sz | 7,543 | PTX, LC, SL |
| c.872−429_1740+1763del | Exons 9–14 del | MLPA | Yes, flanked by Alu-Sx3 and Alu-Sc8 | 7,747 | PTX, LC, SL | ||
| c.1539–536_1740+1071del | Exon 14 del | MLPA | Yes, mediated by 2 Alu-Sq2s with 86.1% identity | 1,809 | PTX, LC, SL | ||
| (7) | Rossing et al., 2017 | c.872−?_1062 + ?del | Exon 9 del | MLPA | No | – | LC, RCC |
| (8) | Matsutani et al., 2016 | c.1177−?_1300+?del | Exon 11 del | Not mentioned | No | – | PTX, LC, SL |
| (9) | Liu et al., 2017 | c.780−?_871+?del | Exon 8 del | MLPA | No | – | LC, renal cysts |
| (10) | Schneider et al., 2018 | c.250−?_396+?del | Exon 5 del | Microarray-CGH, qPCR | No | – | RCC |
| (11) | Iwabuchi et al., 2018 | c.1063−?_1176+?del | Exon 10 del | Not mentioned | No | – | LC, PTX, renal cysts |
| c.1539−?_c.1740+?del | Exon 14 del | Not mentioned | No | – | LC, PTX, skin trichodiscoma | ||
| (12) | Enomoto et al., 2020 | c. −?_−227−?del | Exon 1 del | qPCR | No | – | LC, SL, RCC |
| (13) | This study | c.1063–1446_1740+3410del | Exon 10–14 del | NGS, MLPA | Yes, flanked by Alu-Sg and Alu-Sx1 | 8,384 | PTX, LC, SL |
PTX, pneumothorax; FF, fibrofolliculomas; LC, lung cysts; RCC, renal cell carcinoma; SL, skin lesion (not histopathologically confirmed).
Reference genome, GRCh37/hg19; accession number: FLCN, NM_144997.7.