Table 2.
Prenatal diagnosis of 11 families with mucolipidosis II
| Case no | ML type | Genotypes | Amino acid changes | Location | α-mannosidase activity |
|---|---|---|---|---|---|
| P3 | II α/β | c.88_89 del AC+ c.835G>T | T30Hfs*24+ E279X | E1+E8 | 72.5 |
| P5 | II α/β | c.1090C>T | R364X | E9 | 6.4 |
| P7 | II α/β | N | N | 7.4 | |
| P8 | II α/β | c.1000C>T+ del E9 | R334X+ del E9 | E9+E9 | 72.3 |
| P12 | II α/β | c.1090C>T (Homozygous) | R364X+ R364X | E9+E9 | 127.2 |
| P13 | II α/β | c.2455G>T | E819X | E13 | 6.6 |
| P18 | II α/β | N | N | 8.3 | |
| P20 | II α/β | N | N | 7.3 | |
| P26 | II α/β | c.1001G>C | R334P | E9 | 7.4 |
| P27 | II α/β | c.648_651delAGAA+ c.3136-2A>G | p. E217Sfs*4+ IVS15-2A>G | E7+IVS15 | 83.8 |
| P29 | II α/β | N | N | 7.9 |
Data summary of 11 mucolipidosis II prenatal diagnosis
Note: P indicated patient number, N indicated no mutations were detected, E indicated exon, the unit of enzyme activity is nmol/h · mL. Reference range: α-mannosidase activity <9.3 nmol/h · mL