Table 2.
Overview of the genetic data in our patients (full cohort).
| Family code | Patient ID | Consanguinity | Gender | Genetic tests performed | Gene (causative variant in known SCD genes) | Gene (VUS or CN) |
|---|---|---|---|---|---|---|
| F5 | 53 | yes | M | WES, array genotyping | none | none |
| F5 | 56 | yes | M | Array genotyping | none | none |
| F5 | 61 | yes | M | WES, array genotyping | none | none |
| F7 | 85 | yes | M | WES, Sanger seq. validation | none | CN gene |
| F7 | 86 | yes | F | WES, Sanger seq. Validation | none | CN gene |
| F8 | 98 | yes | F | WES, Sanger seq. validation | SIL1 | none |
| F8 | 99 | yes | F | WES, Sanger seq. validation | SIL1 | none |
| F27 | 227 | no | M | WES, Sanger seq. validation | ERCC8 | none |
| F27 | 228 | no | F | WES, Sanger seq. validation | ERCC8 | none |
| F27 | 229 | no | F | WES, Sanger seq. validation | ERCC8 | none |
| F31 | 267 | yes | F | WES, Sanger seq. validation | VLDLR | none |
| F31 | 268 | yes | F | WES, Sanger seq. validation | VLDLR | none |
| F38 | 318 | yes | M | WES; FRDA screening | FRDA expansion | none |
| F38 | 317 | yes | M | Sanger seq. validation | FRDA not tested | none |
| F38 | 319 | yes | F | Sanger seq. validation | FRDA not tested | none |
| F38 | 328 | yes | M | not sampled | not sampled | not sampled |
| F38 | 329 | yes | F | WES | FRDA not tested | none |
| F41 | 351 | yes | F | WES, array genotyping, Sanger seq. validation | NF1 | none |
| F41 | 349 | yes | M | WES, array genotyping, Sanger seq. validation | no segreg of NF1 | none |
| F46 | 380 | yes | M | WES | none | none |
| F46 | 383 | yes | F | Not sampled | Not sampled | Not sampled |
| F49 | 396 | no | M | SCA expansion screening | SCA3 | none |
| F49 | 398 | no | M | SCA expansion screening | SCA3 | none |
| FM2 | 2016 | yes | F | WES, Sanger seq. validation | none | CN gene |
| FM2 | 2008 | yes | M | Sanger seq. validation | none | no segreg of CN gene |
| FM2 | 2013 | yes | F | WES, Sanger seq. validation | none | CN gene |
| FM3 | 2020 | yes | M | WES, microsatelittes genotyping, Sanger seq. validation | PRUNE1 | none |
| FM3 | 2021 | yes | F | Microsatelittes genotyping, Sanger seq. validation | PRUNE1 | none |
| FM3 | 2022 | yes | F | WES, microsatelittes genotyping, Sanger seq. validation | PRUNE1 | none |
| FM6 | 2042 | yes | F | Sanger seq. validation | DARS2 | none |
| FM6 | 2043 | yes | F | WES, Sanger seq. validation | DARS2 | none |
| FM6 | 2044 | yes | F | Sanger seq. validation | DARS2 | none |
| F53 | 417 | no | M | Sanger seq. validation | SPG11 | none |
| F53 | 418 | no | M | Sanger seq. validation | SPG11 | none |
| F53 | 419 | no | M | HSP panel screening, Sanger seq. validation | SPG11 | none |
| F54 | 427 | yes | M | HSP panel, WES, array genotyping, Sanger seq. validation | AP5Z1 | none |
| F54 | 426 | yes | F | WES, array genotyping, Sanger seq. validation | no segreg of AP5Z1 | none |
| F57 | 439 | yes | F | Sanger seq. validation | SACS | none |
| F57 | 440 | yes | M | Sanger seq. validation | SACS | none |
| F57 | 441 | yes | F | HSP panel, Sanger seq. validation | SACS | none |
| F59 | 451 | yes | F | Sanger seq. validation | NT5C2 | none |
| F59 | 452 | yes | M | HSP panel, Sanger seq. validation | NT5C2 | none |
| F59 | 453 | yes | M | Sanger seq. validation | NT5C2 | none |
| F61 | 465 | yes | M | HSP panel, Sanger seq. validation | FA2H | none |
| F61 | 467 | yes | F | Sanger seq. validation | FA2H | none |
| F62 | 470 | yes | M | WES, Sanger seq. validation | ERCC6 | none |
| F62 | 471 | yes | M | HSP panel, WES, Sanger seq. validation | ERCC6 | none |
| F63 | 476 | yes | F | HSP panel, WES, Sanger seq. validation | ADAT3A | none |
| F63 | 477 | yes | F | WES, Sanger seq. validation | ADAT3A | none |
| F65 | 484 | yes | M | Array genotyping, Sanger seq. validation | none | CN gene |
| F65 | 485 | yes | M | SCA expansion screening, WES, array genotyping, Sanger seq. validation | none | CN gene |
| F65 | 486 | yes | M | HSP panel, SCA expansion screening, WES, array genotyping, Sanger seq. validation | none | CN gene |
| F65 | 487 | yes | F | Array genotyping, Sanger seq. validation | none | CN gene |
| F66 | 490 | yes | M | HSP panel, WES, Sanger seq. validation | none | DMXL2 |
| F66 | 493 | yes | M | HSP panel, WES, Sanger seq. validation | none | DMXL2 |
| F67 | 496 | yes | F | WES, Sanger seq. validation | none | MFSD8 |
| F68 | 503 | yes | F | HSP panel, WES, Sanger seq. validation | FA2H | none |
| F68 | 504 | yes | F | HSP panel, WES, Sanger seq. validation | FA2H | none |
| F69 | 508 | yes | F | HSP panel, WES, Sanger seq. validation | none | CN gene (ABHD16A) |
| F69 | 509 | yes | M | HSP panel, WES, Sanger seq. validation | none | CN gene (ABHD16A) |
| F70 | 513 | yes | F | WES, array genotyping, Sanger seq. validation | POLR3A | none |
| F70 | 514 | yes | M | HSP panel, WES, Sanger seq. Validation, array genotyping | no segreg of POLR3A | none |
| F73 | 527 | yes | M | HSP panel, WES, Sanger seq. Validation, array genotyping | none | CN gene |
| F73 | 525 | yes | F | HSP panel, WES, Sanger seq. Validation, array genotyping | none | no segreg of CN gene |
| F74 | 529 | yes | M | Array genotyping, Sanger seq. validation | none | none |
| F74 | 530 | yes | M | HSP panel, WES, Sanger seq. Validation, array genotyping | none | none |
| F74 | 531 | yes | M | HSP panel, WES, Sanger seq. Validation, array genotyping | none | none |
| F74 | 532 | yes | M | Array genotyping, Sanger seq. validation | none | none |
| F74 | 533 | yes | M | Array genotyping, Sanger seq. validation | none | none |
| F74 | 535 | yes | M | Array genotyping, Sanger seq. validation | none | none |
| F74 | 536 | yes | M | Array genotyping, Sanger seq. validation | none | none |
| F75 | 542 | yes | F | HSP panel, WES, Sanger seq. Validation, array genotyping | none | CN gene |
| F75 | 543 | yes | M | HSP panel, WES, Sanger seq. Validation, array genotyping | none | CN gene |
| F76 | 547 | yes | F | HSP panel, Sanger seq. validation | DDHD2 | none |
| F76 | 548 | yes | M | HSP panel, Sanger seq. validation | DDHD2 | none |
| F77 | 550 | yes | F | HSP panel, WES, Sanger seq. validation | none | CN gene |
| F77 | 551 | yes | M | HSP panel, WES, Sanger seq. validation | none | CN gene |
| F78 | 557 | yes | M | HSP panel, Sanger seq. validation | ZFYVE26 | none |
| F78 | AA | yes | F | Sanger seq. validation | ZFYVE26 | none |
| F79 | 568 | yes | M | WES, Sanger seq. validation | none | HERC2/ATP2B3 |
| F80 | 573 | yes | F | WES, array genotyping, Sanger seq. validation | NT5C2 | none |
| F80 | 572 | yes | F | WES, array genotyping, Sanger seq. validation | no segreg of NT5C2 | none |
| F81 | 576 | yes | M | WES, array genotyping, Sanger seq. validation | CCDC82 | none |
| F81 | 577 | yes | F | WES, array genotyping, Sanger seq. validation | CCDC82 | none |
| F82 | 580 | yes | M | WES, Sanger seq. validation | HUWE1 | none |
| F83 | 581 | distant | F | WES, Sanger seq. validation | CCDC88C | none |
| F84 | 588 | yes | M | WES, Sanger seq. validation | MCOLN1 | none |
| F84 | 589 | yes | F | WES, Sanger seq. validation | MCOLN1 | none |
| F85 | 2056 | yes | M | WES, array genotyping, Sanger seq. validation | none | PTPRQ homozygous |
| F85 | 2059 | yes | F | Array genotyping, Sanger seq. validation | none | PTPRQ heterozygous |
M Males, F Females, CN gene Candidate novel gene, WES Whole exome sequencing, FRDA Friedreich ataxia gene (GAA expansion), SCA3 Repeat expansion in the ATXN3 gene, HSP panel Hereditary spastic paraplegia gene panel, no cosegreg no cosegregation of the variant (absent in the patient)