Table 2.
Genotypes of Colombian MPSII patients
| Code | Mutation (cDNA) | Mutation (protein) | Phenotype | Reporta |
|---|---|---|---|---|
| MPSII001 | c.477 insT | P160S fsX4 | N | This study |
| MPSII002 | c.548_564dupTTGCCCTGTGGATGTG | D190P fsX13 | N | This study |
| MPSII003 | c.1403G>A | R468Q | N | Whitley (1993); Villani (2000); Sukegawa-Hayasaka et al. (2006) |
| MPSII004 | c.263G>A | R88H | N | Rathmann et al. (1996) |
| MPSII005 | c.708G>C | K236N | Suggest. N | Gucev (2011) |
| MPSII006 | c.1393C>T | Q465X | N | Li (1996) |
| MPSII007 | c. 212G>A (polymorphism c.438 C>T) | S71N | No N | Froissart et al. (1998) |
| MPSII008 | c.1403G>A | R468Q | N | Whitley (1993), Villani (2000) |
| MPSII009 | c.1039A>C | K347Q | N | Lissens (1997) |
| MPSII010 | c.595_607delACAGAGCACTGA | Del.Q200_E2003 (QSTE) | N | This study |
| MPSII011 | c. 549_562delTGCCCTGTGGATG | P185WfsX23 | N | This study |
| MPSII012 | Deletion of exon 7 | R294GfsX2 | N | This study |
| MPSII013 | Conversion involving intron 3 | – | N | Lualdi et al. (2005) |
| MPSII014 | c.263G>A | R88H | Suggest. N | Rathmann et al. (1996) |
| MPSII015 | c. 212G>A (polymorphism c.438 C>T) | S71N | Non N | Froissart et al. (1998) |
| MPSII016 | c.1393C>T | Q465X | N | Li (1996) |
| MPSII017 | c.1393C>T | Q465X | N | Li (1996) |
| MPSII018 | c.182 delC | P62QfsX67 | N | This study |
aThese mutations were verified against the X Chromosome gene database ® and Human Gene Mutation Database ® from Biobase, confirming whether these were novel or previously reported mutations