Table 3.
PEX Mutations in HYP Families
| Family (patient no.) | Inheritance | Sex | Exon | Mutation | Type | Enzyme site change | Comment |
| 324 (4152) | X-linked | F | 1 | 58C > T, R20X | stop | TaqI (loss) | recurrent |
| 353 (8817) | X-linked | F | 1 | 58C > T, R20X | stop | TaqI (loss) | recurrent |
| 318 (4331) | X-linked | M | 3 | 253T > C, C85R | missense | ||
| 310 (3941) | X-linked | M | 4–5 | exons deleted | deletion | ||
| 304 (2985) | X-linked | F | 6 | 682delTC | frameshift, stop after 8 aa | ||
| 315 (4205) | X-linked | M | 6 | exon deleted | deletion | ||
| 323 (4142) | X-linked | M | 8 | 871C > T, R291X | stop | ||
| 325 (4173) | X-linked | M | 8 | splice donor: GT > TT | splice site | BstNI (loss) | |
| 347 (7754) | sporadic | M | 9 | exon deleted | deletion | ||
| 303 (2770) | X-linked | F | 10 | 1134delT | frameshift stop after 14 aa | MaeI (gain) | |
| 339 (5761) | X-linked | M | 10–11 | exon deleted | deletion | ||
| 313 (3998) | X-linked | M | 12 | 1367G > A, W456X | stop | ||
| 321 (4098) | X-linked | M | 12 | exon deleted | deletion | ||
| 309 (3819) | sporadic | F | 14 | 1559delG | frameshift stop after 1 aa | CviJI (loss) | |
| 338 (5760) | X-linked | M | 14 | 1571insC | frameshift | ||
| 333 (4913) | sporadic | F | 15 | 1601C > T, P534L | missense | recurrent | |
| 351 (8496) | sporadic | F | 15 | 1601C > T, P534L | missense | recurrent | |
| 342 (6991) | X-linked | F | 16 | splice donor: GT > GC | splice site | ||
| 305 (3752) | X-linked | M | 17 | 1735G > C, G579R | missense | recurrent segreg. | |
| 317 (4057) | X-linked | M | 17 | 1735G > A, G579R | missense | recurrent segreg. | |
| 334 (5587) | sporadic | F | 17 | 1735G > A, G579R | missense | recurrent | |
| 340 (5762) | sporadic | F | 17 | 1735G > A, G579R | missense | recurrent | |
| 314 (4004) | X-linked | M | 17–22 | exons deleted | deletion | ||
| 319 (4350) | X-linked | M | 18 | 1783insTGAT duplication | frameshift | ||
| 344 (7339) | X-linked | F | 18 | 1831delTT | frameshift | MseI (loss) only 24 bp | |
| 320 (4090) | X-linked | M | 19 | 1952G > C, R651P | missense | AciI (loss), MspI (gain) | segreg. |
| 349 (7756) | X-linked | M | 19–22 | exons deleted | deletion | ||
| 301 (1928) | X-linked | M | 20 | 1979G > A, W660X | stop | ||
| 332 (4845) | sporadic | F | 20 | 1991insTGAC, duplication | frameshift | ||
| 336 (5647) | X-linked | F | 21 | 2093delC | frameshift | ||
| 316 (4064) | X-linked | M | 22 | 2239C > T, R747X | stop | recurrent segreg. | |
| 327 (4184) | sporadic | M | 22 | 2239C > T, R747X | stop | recurrent | |
| 330 (4316) | X-linked | F | 22 | 2239C > T, R747X | stop | recurrent segreg. |
