Type of mutation | Detection in second generation No (%) (n = 92) | Detection in sporadic non-mosaic patients (% non mosaic) | Mosaic mutations (% of mosaic) No (%) | Total* |
---|---|---|---|---|
FSD, frame shifting deletion; FSI, frame shifting insertion; IFD, intrinsic factor deficiency; MLPA, multiple ligation-dependent probe amplification. | ||||
*Mosaic patients are already counted under the previous two columns, and therefore the denominator is the addition from columns 2 and 3. | ||||
Splice site | 28 (30) | 35 (22) | 3 (5) | 66 (15) |
MLPA positive | 20 (22) | 21 (14) | 11 (17) | 52 (11) |
FSD | 14 (15) | 31 (19) | 16 (25) | 61 (13%) |
Nonsense | 11 (12) | 57 (35) | 24 (37.5) | 92 (20) |
Missense | 6 (6.5) | 4 (2.5) | 1 (1.5) | 11 (2.5) |
FSI | 3 (3) | 11 (7) | 3 (5) | 17 (4) |
IFD | 1 (1) | 1 | 3 (5) | 5 (1) |
Ring 22 | 0 | 0 | 3 (5) | 3 |
Not found | 8 (9) | 208 (56.5) | 152/460 (33) | |
Total | 84/92 (91) | 160/368 (43.5) | 64/368 (17) | 308/460 (67) |