Table 2 Biochemical and molecular results in the 8 studied patients
From: Quaternary diagnostics scheme for mucolipidosis II and detection of novel mutation in GNPTAB gene
Patient | Sex | Age of onset | Hex-A activity (μmol/l/h) | Gene | Exon | Mutation | Type |
|---|---|---|---|---|---|---|---|
1 | M | 4 months | 389.9 | GNPTAB | 13 | p.R587X | Reported |
2 | M | Prenatally | NA | GNPTAB | 13 | p.R587X | Reported |
3 | M | At birth | 672 | GNPTAB | 19 | p.L1168QfsX5 | Reported |
4 | F | At birth | 651.1 | GNPTAB | 19 | p.L1168QfsX5 | Reported |
5 | M | NA | 500.4 | GNPTAB | 19 | p.L1168QfsX5 | Reported |
6 | F | At birth | 702 | GNPTAB | 19 | p.L1168QfsX5 | Reported |
7 | M | Prenatally | 290 | GNPTAB | 19 | p.L1168QfsX5 | Reported |
8 | F | At birth | 263 | GNPTAB | 19 | p.T1163KfsX2 | Novel |