Table 3.
Mosaic Individuals in De Novo FSHD Families
|
Percentage of PBLs Carrying Allele (Size, in kb) |
Age (in years) at Onset of Weaknessc |
Severity Score |
||||||||||||
| Family | Sex | Repeat Length | AffectionStatus | Original | Disease | Inheritance | RearrangedAllelea | Δb(kb) | Allele Constitution | Shoulder | FootExtensor | Pelvic | Clinical | Genotypic |
| 1 | M | 2 | Affected | 50 (70) | 50 (12) | Paternal | Small | 58 | 4 on 10 | 15 | 19 | 40 | 3 | 1.50 |
| 5 | M | 2 | Affected | 80 (96) | 20 (12) | Paternal | Small | 84 | Standard | 18 | 23 | − | 3 | .60 |
| 6 | M | 1 | Affected | 66 (230) | 34 (8) | Paternal | Large | 222 | 4 on 10 | 4 | 4 | 4 | 5 | 1.36 |
| 7 | M | 4 | Affected | 73 (65) | 27 (18) | Maternal | Small | 47 | Standard | 18 | ? | 34 | 3 | .27 |
| 12 | F | 4 | Affected | 5 (80) | 95 (18) | Maternal | Large | 62 | 4 on 10 | 12 | 7 | 12 | 5 | .95 |
| 13 | F | 4 | Affected | 35 (62) | 65 (17) | ? | Small | 45 | Standard | 14 | ? | ? | 4 | .65 |
| 24 | M | 3 | Affected | 55 (40) | 45 (15) | Maternal | Small | 25 | Standard | 14 | 30 | 30 | 4 | .90 |
| 26 | M | 2 | Affected | 60 (130) | 40 (12) | Maternal | Large | 118 | Standard | 13 | 11 | 18 | 4 | 1.20 |
| 35 | M | 2/6 | Affected | 4 on 10 | 73 | 48 | 72 | 2 | ||||||
| 4 | M | 2 | Carrier | 67 (40) | 33 (12) | Small | 28 | Standard | ? | ? | ? | |||
| 34 | M | 4/5 | Carrier | 60 (22) | 40 (19) | Small | 3 | 4 on 10 | − | − | − | 0 | .00 | |
| 9 | F | 1 | Carrier | 85 (110) | 15 (10) | 100 | 4 on both 10 | −d | − | − | 1 | .60 | ||
| 10 | F | 3 | Carrier | ? | ? | ? | ||||||||
| 11 | F | 4 | Carrier | 62 (48) | 38 (21) | Small | 27 | Standard | − | − | − | 0 | .38 | |
a
Smallest or largest chromosome 4 allele rearranged.
b
Size of the deletion.
c
A minus sign (−) indicates that the individual is not affected; a question mark (?) indicates onset unknown.
d
This individual has a mild facial weakness.