Table 4.
Review of disease-causing mutations in the Mucopolysaccharidosis.
| Disorder | Gene | Chr. | Pathogenic Variants Reported * | Mutation Type (%) | |||||
|---|---|---|---|---|---|---|---|---|---|
| M/N | S | R | SD/SI/SID | GD/GI/GID | CR | ||||
| MPS I | IDUA | 4p16 | 292 | 56.9 | 15.8 | 0.3 | 23.6 | 2.4 | 1 |
| MPS II | IDS | Xq28 | 659 | 49.8 | 9.3 | 0 | 29.1 | 8.8 | 3 |
| MPS IIIA | SGSH | 17q25 | 150 | 76.6 | 2 | 0 | 18.7 | 2.7 | 0 |
| MPS IIIB | NAGLU | 17q21 | 177 | 67.3 | 4.5 | 0 | 23.7 | 4.5 | 0 |
| MPS IIIC | HGSNAT | 8p11 | 72 | 55.6 | 19.4 | 0 | 16.7 | 6.9 | 1.4 |
| MPC IIID | GNS | 12q14 | 25 | 28 | 16 | 0 | 40 | 8 | 8 |
| MPS IVA | GALNS | 16q24 | 348 | 74.4 | 9.8 | 0 | 11.5 | 3.4 | 0.9 |
| MPS IVB | GLB1 | 3p21 | 234 | 76 | 7.3 | 0 | 15.4 | 1.3 | 0 |
| MPS VI | ARSB | 5q14 | 208 | 76 | 5.2 | 0 | 15.4 | 3.4 | 0 |
| MPS VII | GUSB | 17q21 | 66 | 81.8 | 7.6 | 1.5 | 7.6 | 1.5 | 0 |
| MPS IX | HYAL1 | 3p21 | 3 | 33.4 | 0 | 0 | 33.3 | 0 | 33.3 |
| MPSPS # | VPS33A | 12q24 | 1 | 100 | 0 | 0 | 0 | 0 | 0 |
| Total | 2235 | 64.6 | 8 | 0.2 | 19.6 | 3.6 | 4 | ||
Chr: chromosome, M/N: missense/ nonsense, S: splicing, R: regulatory, SD: small deletions, SI: small insertions, SID: Small indels, GD: gross deletions, GI: gross insertions, GID: Gross indels, CR: complex rearrangements. # MPSPS: mucopolysaccharidosis-plus syndrome; *: HGMD professional 2019.1 (accessed on: August 15 2019).