Table 1.
Clinical Features and Genetic Analysis of RFC1 Locus in Study Participants
| Family | Participants (Sex) | SNP Array | WES | WGS | RFC1 STR in WES | PCR Wild-Type Allele | Repeat-Primed PCR | Genetic Diagnosis | Haplotype | Ethnicity |
|---|---|---|---|---|---|---|---|---|---|---|
| CANVAS1 | 2 (F) | Y | Y | Y | ND | N | Y | CANVAS | A/other | European |
| CANVAS2 | 2 (M) | Y | Y | Y | AAGGG and AAAGG | N | Y | CANVAS | A | European |
| CANVAS3 | 2 (F) | Y | Y | N | AAGGG | N | Y | CANVAS | A | European |
| CANVAS4 | 4 (3M,1F) | Y | Y | N | AAGGG | N | Y | CANVAS | A | Greek-Cypriot |
| CANVAS5 | 2 (M,F) | N | N | N | ND | N | Y | CANVAS | not assessed | not reported |
| CANVAS6 | 2 (M) | N | Y | N | AAGGG | N | Y | CANVAS | A | Lithuanian/Latvian |
| CANVAS7 | 1 (M) | N | Y | N | ND | N | Y | CANVAS | A | European-Maori |
| CANVAS8 | 1 (F) | N | Y | Y | AAGGG and AAAGG | N | Y | CANVAS | A/other | European |
| CANVAS9 | 4 (1M,3F) | N | Y | Y | AAGGG | N | Y | CANVAS | A | Lebanese |
| CANVAS10 | 1 (M) | N | Y | N | AAGGG | N | Y | CANVAS | A | European |
| CANVAS11 | 1 (M) | N | Y | Y | ND | Y | N | ? | NA | Anglo-saxon |
| CANVAS12 | 1 (M) | N | Y | N | ND | N | Y | CANVAS | A | Turkish |
| CANVAS13 | 1 (M) | N | Y | Y | reference | Y | N | SCA3 | NA | Martinique |
| CANVAS14 | 1 (M) | N | Y | N | AAGGG | N | Y | CANVAS | other∗ | European |
| CANVAS16 | 1 (F) | N | N | N | NA | N | Y | CANVAS | not assessed | European |
| CANVAS17 | 2 (M) | N | Y | Y | reference | Y | N | SACS | NA | European |
| CANVAS18 | 1 (F) | N | Y | N | ND | N | Y | CANVAS | A | European-Maori |
| CANVAS19 | 1 (F) | N | N | Y | NA | Y | N | SCA45 | not assessed | European |
| CANVAS20 | 2 (1M,1F) | N | N | N | NA | N | Y | CANVAS | not assessed | Spanish |
| CANVAS21 | 1 (M) | N | N | N | NA | N | Y | CANVAS | not assessed | Indian |
| CANVAS22 | 1 (M) | N | N | N | NA | N | Y | CANVAS | not assessed | Hungarian |
| CANVAS23 | 1 (U) | N | N | N | NA | N | Y | CANVAS | not assessed | not reported |
Abbreviations: M, male; F, female; U, deidentified; NA, not applicable; ND, not detected; Other∗, a different haplotype OR shortened A haplotptye. The gene reference sequences utilized were GenBank: NC_000004.11 and NM_002913.4 (RFC1).