Table 1 In 6 cases the CGG repeat number was within the range 41–54 CGG repeat (gray zone), and in 9 cases we found FMR1 premutation (55–200 CGG repeat). In 4 cases we found differences in both alleles, one was a premutation allele, and the other allele showed a repeat number belonging to the gray zone
Family No | Code | CGG repeat number with praemutation caused POF-POI | Allel number with premutation or gray zone | Premutation (PM) or gray zone (GZ) | Premutation with paternal (p) or maternal (m) origin | Original paternal allel | Original maternal allel | Repeat number expansion | AGG interruptions (n) | Full mutation in family | Family member with full mutation |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 191 | 30/91 | 1 | PM | m | 30 | 91 | no | 2 | 91-- > 200 | son |
2 | 252 | 41/55 | 2 | PM and GZ | p (PM) m (GZ) | 55 | 41 | no | 0 | ||
3 | 258 | 22/79 | 1 | PM | p | 75 | 22 | 75-- > 79 | 1 | 75-- > 200 | brother |
4 | 276 | 22/42/52 (mosaic) | 1 | GZ | p | 40 | 21 | 40-- > 42/ 40-- > 52 | 3 | ||
5 | 296 | 50/82 | 2 | PM and GZ | p (PM) m (GZ) | 82 | 49 | no | 0 | ||
6 | 311 | 52/76 | 2 | PM and GZ | p (PM) m (GZ) | 52/64/76 mosaic | 52 | no | 3 | ||
7 | 310 | 29/58 | 1 | PM | p | 58 | 29 | no | 3 | ||
8 | 327 | 29/42 | 1 | GZ | p | 42 | 29 | no | 3 | ||
9 | 365 | 22/46 | 1 | GZ | p | 46 | 23 | no | 3 | ||
10 | 367 | 29/90 | 1 | PM | p | 88 | 30 | 88-- > 90 | 2 | ||
11 | 377 | 23/45 | 1 | GZ | p | 45 | 23 | no | 3 | ||
12 | 372 | 30/42 | 1 | GZ | p | 42 | 29 | no | 2 | ||
13 | 375 | 23/41 | 1 | GZ | m | 23 | 41 | no | 3 | ||
14 | 431 | 21/74 | 1 | PM | p | 70 | 21 | 70-- > 74 | 0 | ||
15 | 436 | 30/89 | 1 | PM | p | 87 | exit | 87-- > 89 | 2 | 87-- > 200, 133-- > 200 | other family member |