| Family ID | Mutation analysis | Phenotype in family members | |||||||||
| Intron | Exon | Nucleotide change | Codon location | Mutation type | No. clinical affected | No. with FF | Other skin lesions | No. with renal tumours | No. with lung cysts | No. with pneumo-thorax | |
| 251 | 4 | c.514delT† | F20 | Deletion | 1 | 1 | TD, BCC | 0 | 0 | 0 | |
| 252 | 4 | c.602delA | E49 | Deletion | 1 | 1 | 0 | 1 | 1 (n = 3) | ||
| 253 | 4 | IVS4-2A>G | Splice site | 1 | 1 | 0 | 1 | 1 (n = 1) | |||
| 240 | 4 | IVS4-2A>G | Splice site | 10 | 9 | TD, PFF | 1 | 4 | 0 | ||
| 254 | 4 | IVS4-2A>G | Splice site | 1 | 1 | TD | 1 | 1 | 0 | ||
| 255 | 4 | IVS4-2A>G | Splice site | 1 | 1 | PFF | 0 | 1 | 1 (n = 2) | ||
| 256* | 5 | c.751delA | D99 | Deletion | 1 | 0 | PFF | 1 | 1 | 1 (n = 5) | |
| 1798 | 5 | c.774-5delGTinsCAC | V107 | Deletion/ insertion | 1 | 1 | TD | 0 | 1 | 0 | |
| 257 | 5 | c.774-5delGTinsCAC | V107 | Deletion/ insertion | 4 | 3 | PFF, SH | 0 | 4 | 0 | |
| 258 | 5 | c.802insA | Q116 | Insertion | 1 | 1 | LM | 1 | 1 | 1 (n = 17) | |
| 259 | 6 | c.1039delG† | G195 | Deletion | 1 | 1 | 1 | 1 | 0 | ||
| 260 | 6 | c.1039delG† | G195 | Deletion | 1 | 1 | SH, PFF | 0 | 1 | 1 (n = 1) | |
| 1751 | 6 | c.1065-6delGCinsTA | A204X | Nonsense | 4 | 4 | AF, BCC | 0 | 4 | 2 (n = 2) | |
| 261 | 7 | IVS7+1 G>T | Splice site | 1 | 1 | L | 1 | 1 | 1 (n = 3) | ||
| 262 | 7 | IVS7+1 G>T | Splice site | 5 | 4 | AF, DFSP, LS, TD | 4 | 5 | 1 (n = 1) | ||
| 263* | 7 | IVS7+1 G>T | Splice site | 1 | 1 | 1 | 1 | 1 (n = 1) | |||
| 264 | 9 | c.1378-1405dup | T317 | Insertion | 1 | 1 | PFF | 1 | 1 | 0 | |
| 265 | 9 | c.1378-1405dup | T317 | Insertion | 2 | 2 | PFF | 1 | 2 | 2 (n = 4) | |
| 266 | 9 | c.1378-1405dup | T317 | Insertion | 1 | 1 | TD | 0 | 1 | 0 | |
| 267 | 9 | IVS9+2 T>G | Splice site | 1 | 1 | 0 | 1 | 0 | |||
| 268 | 11 | c.1670C>G | Y405X | Nonsense | 1 | 1 | DF | 1 | 1 | 0 | |
| 269 | 11 | c.1707delC | L418 | Deletion | 1 | 0 | AF, SH, SCC | 0 | 1 | 0 | |
| 270 | 11 | c.1733insC | H429 | Insertion | 1 | 1 | MM, L | 1 | 0 | 0 | |
| 271 | 11 | c.1733insC | H429 | Insertion | 2 | 2 | TD, PFF, CTN | 0 | 1 | 0 | |
| 272 | 11 | c.1733insC | H429 | Insertion | 1 | 1 | BCC, PFF | 0 | 1 | 0 | |
| 273 | 11 | c.1733insC | H429 | Insertion | 1 | 1 | PFF | 0 | 1 | 0 | |
| 274 | 11 | c.1733insC | H429 | Insertion | 1 | 1 | PFF, SH | 0 | 1 | 1 (n = 4) | |
| 275 | 11 | c.1733insC | H429 | Insertion | 2 | 2 | 1 | 2 | 1 (n = 5) | ||
| 276 | 11 | c.1733insC | H429 | Insertion | 1 | 1 | BCC | 0 | 0 | 0 | |
| 277 | 11 | c.1733insC | H429 | Insertion | 2 | 2 | PFF | 0 | 2 | 0 | |
| 278 | 11 | c.1733insC | H429 | Insertion | 3 | 2 | PFF | 0 | 2 | 0 | |
| 279* | 11 | c.1733insC | H429 | Insertion | 2 | 2 | 2 | 2 | 1 (n = 1) | ||
| 280 | 11 | c.1733insC | H429 | Insertion | 3 | 2 | AF, CTN | 0 | 3 | 3 (n = 5) | |
| 281 | 11 | c.1733insC | H429 | Insertion | 2 | 2 | AF | 0 | 2 | 1 (n = 5) | |
| 282 | 11 | c.1733insC | H429 | Insertion | 1 | 1 | 1 | 1 | 0 | ||
| 283 | 11 | c.1733insC | H429 | Insertion | 3 | 2 | 1 | 3 | 1 (n = 1) | ||
| 284 | 11 | c.1733delC | H429 | Deletion | 4 | 3 | L, MM | 1 | 4 | 3 (n = 4) | |
| 285* | 11 | c.1733delC | H429 | Deletion | 1 | 1 | 1 | 1 | 1 (n = 7) | ||
| 286 | 11 | c.1733delC | H429 | Deletion | 1 | 1 | 0 | 1 | 0 | ||
| 287 | 11 | c.1733delC | H429 | Deletion | 1 | 0 | TD | 1 | 1 | 1 (n = 1) | |
| 288 | 11 | c.1733delC | H429 | Deletion | 2 | 2 | AF | 2 | 2 | 0 | |
| 289 | 11 | c.1741insA | H429 | Insertion | 1 | 1 | BCC, SCC | 0 | 1 | 1 (n = 3) | |
| 290* | 11 | c.1755G>C | E434Q | Splice site | 1 | 1 | 1 | 0 | 0 | ||
| 291* | 11 | c.1755G>A | E434K | Splice site | 2 | 1 | PFF | 1 | 2 | 1 (n = 4) | |
| 292 | 12 | c.1834-5delTC | L460 | Deletion | 1 | 1 | 1 | 1 | 1 (n = 1) | ||
| 293 | 12 | c.1844C>G | Y463X | Nonsense | 2 | 2 | AF | 0 | 2 | 1 (n = 2) | |
| 294 | 12 | c.1844C>G | Y463X | Nonsense | 1 | 0 | PFF, AF | 0 | 0 | 0 | |
| 295 | 12 | c.1844C>G | Y463X | Nonsense | 1 | 1 | AF | 1 | 1 | 1 (n = 4) | |
| 296 | 12 | IVS12+1G>A | Splice site | 1 | 1 | TD, PFF | 0 | 1 | 1 | ||
| 297* | 13 | c.1978A>G | K508R | Missense | 1 | 0 | 0 | 1 | 0 | 0 | |
| 298 | 13 | c.1983-5delGAG | E510 | Deletion | 2 | 1 | AF | 0 | 2 | 2 (n = 4) | |
| Totals: 51 families | 89 | 75 | 30 | 75 | |||||||
AF, angiofibroma; BCC, basal cell carcinoma; CTN, connective tissue nevus; DFSP, dermatofibrosarcoma protuberans; FF, fibrofolliculoma; L, lipoma; LM, cutaneous leiomyoma; MM, malignant melanoma; PFF, perifollicular fibroma; LS, cutaneous leiomyosarcoma; SCC, squamous cell carcinoma; SH, sebaceous hyperplasia; TD, trichodiscoma.
FF diagnosis is based on histological diagnosis only.
*Families ascertained on the basis of kidney tumours. †In these cases of deletions in a mononuclear tract, the last nucleotide is given. The c.514delT mutation was formerly reported as c.513delT and the c.1039delG was formerly reported as c. 1036delG.