Table 2.
Genotype versus BH4 response in 94 Chinese PAH Deficient patients.
| Genotypea | No | responder | non-responder | Inconsistencies (No.) |
|---|---|---|---|---|
| null/null | ||||
| p.[Arg243Gln]; [IVS12 + 4 A > G] | 1 | 1cPKU | 0 | 1 |
| p.[Ex6-96 A > G]; [Arg243Gln] | 8 | 1cPKU | 5cPKU/2mPKU | 1 |
| p.[IVS4-1G > A]; [Tyr356*] | 1 | 1cPKU | 0 | 1 |
| p.[Arg243Gln]; [Gly247Val] | 1 | 1mPKU | 0 | 1 |
| p.[Arg243Gln]; [Val399Val] | 2 | 1mPKU | 1mPKU | 1 |
| p.[Phe161Ser]; [Arg243Gln] | 1 | 1mPKU | 0 | 1 |
| p.[Ser70del]; [Arg243Gln] | 1 | 1mPKU | 0 | 1 |
| p.[Arg243Gln]; [Cys357*] | 1 | 0 | 1cPKU | 0 |
| p.[Arg111*]; [Arg413Pro] | 1 | 0 | 1cPKU | 0 |
| p.[Tyr166*]; [Ex6-96 A > G] | 1 | 0 | 1cPKU | 0 |
| p.[Arg413Pro]; [Arg413Pro] | 1 | 0 | 1cPKU | 0 |
| p.[Ex6-96 A > G]; [Arg261*] | 1 | 0 | 1cPKU | 0 |
| p.[Arg176*]; [IVS6-1G > A] | 1 | 0 | 1cPKU | 0 |
| p.[IVS4-1G > A]; [Arg413Pro] | 2 | 0 | 2cPKU | 0 |
| p.[Arg243Gln]; [Arg243Gln] | 5 | 0 | 3cPKU/2mPKU | 0 |
| p.[Arg111*]; [Arg243Gln] | 2 | 0 | 1cPKU/1mPKU | 0 |
| p.[Arg243Gln]; [Tyr356*] | 1 | 0 | 1cPKU | 0 |
| p.[Arg111*]; [Tyr356*] | 2 | 0 | 1cPKU/1mPKU | 0 |
| p.[Gln232*]; [Arg243Gln] | 1 | 0 | 1cPKU | 0 |
| p.[IVS4-1G > A]; [Arg243Gln] | 1 | 0 | 1cPKU | 0 |
| p.[Ex6-96 A > G]; [IVS6-1G > A] | 1 | 0 | 1cPKU | 0 |
| p.[Arg158Trp]; [Val399Val] | 1 | 0 | 1cPKU | 0 |
| p.[Arg111*]; [Val399Val] | 2 | 0 | 1cPKU/1mPKU | 0 |
| p.[Arg261*]; [Tyr356*] | 1 | 0 | 1mPKU | 0 |
| p.[Ex6-96 A > G]; [Arg413Pro] | 1 | 0 | 1mPKU | 0 |
| p.[Ex6-96 A > G]; [Tyr356*] | 1 | 0 | 1mPKU | 0 |
| p.[Ex6-96 A > G]; [Ex6-96 A > G] | 1 | 0 | 1mPKU | 0 |
| Total | 43 | 7 | 36 | 7 |
| at least one mutation with definite BH4 responsiveness | ||||
| p.[Ex6-96 A > G]; [Val388Met] | 1 | 1cPKU | 0 | 0 |
| p.[IVS4-1G > A]; [Arg241Cys] | 2 | 2mPKU | 0 | 0 |
| p.[Arg241Cys]; [Arg243Gln] | 3 | 3mPKU | 0 | 0 |
| p.[Arg241Cys]; [IVS7 + 2 T > A] | 2 | 2mPKU | 0 | 0 |
| p.[Arg241Cys]; [IVS7 + 1 G > A] | 1 | 1mPKU | 0 | 0 |
| p.[Ex6-96 A > G]; [Arg241Cys] | 5 | 3mPKU/2MHP | 0 | 0 |
| p.[Arg241Cys]; [Arg400Lys] | 1 | 1mPKU | 0 | 0 |
| p.[Arg243Gln]; [Arg261Gln] | 1 | 1mPKU | 0 | 0 |
| p.[Ser70del]; [Val388Met] | 1 | 1mPKU | 0 | 0 |
| p.[Arg243Gln]; [Val388Met] | 1 | 1mPKU | 0 | 0 |
| p.[Glu183Gly]; [Arg241Cys] | 1 | 1mPKU | 0 | 0 |
| p.[Arg241Cys]; [Glu286Lys] | 2 | 2mPKU | 0 | 0 |
| p.[Ala156Pro]; [Arg408Gln] | 1 | 1mPKU | 0 | 0 |
| p.[Arg241Cys]; [Val388Met] | 1 | 1mPKU | 0 | 0 |
| p.[Arg241Cys]; [Arg241Cys] | 1 | 1MHP | 0 | 0 |
| p.[Arg241Cys]; [Leu255Ser] | 1 | 1mPKU | 0 | 0 |
| p.[Phe161Ser]; [Arg241Cys] | 1 | 1mPKU | 0 | 0 |
| p.[Arg111*]; [Arg241Cys] | 2 | 2mPKU | 0 | 0 |
| p.[Ser70del]; [Arg241Cys] | 1 | 1mPKU | 0 | 0 |
| p.[Arg241Cys]; [Arg413Pro] | 1 | 1mPKU | 0 | 0 |
| p.[Ser70del]; [Arg261Gln] | 1 | 1MHP | 0 | 0 |
| p.[Phe121Leu]; [Arg241Cys] | 1 | 1mPKU | 0 | 0 |
| p.[Arg241Cys]; [Gly247Arg] | 2 | 1mPKU/1MHP | 0 | 0 |
| p.[Gly257Val]; [Arg408Gln] | 1 | 0 | 1mPKU | 1 |
| Total | 35 | 34 | 1 | 1 |
| mutations without definite BH4 responsiveness | ||||
| p.[Arg243Gln]; [Ala434Asp] | 2 | 1mPKU | 1cPKU | / |
| p.[Ser70del]; [Arg158Gln] | 1 | 1mPKU | 0 | / |
| p.[Ex6-96 A > G]; [Gln419Arg] | 1 | 1mPKU | 0 | / |
| p.[Arg155His]; [Val399Val] | 1 | 1MHP | 0 | / |
| p.[IVS4-1G > A]; [Ile406Thr] | 1 | 0 | 1cPKU | / |
| p.[His64*]; [Ala156Pro] | 1 | 0 | 1cPKU | / |
| p.[Gly247Val]; [Cys357Tyr] | 1 | 0 | 1mPKU | / |
| p.[Phe161Ser]; [Arg243Gln] | 1 | 0 | 1mPKU | / |
| p.[Arg111*]; [Met276Arg] | 1 | 0 | 1mPKU | / |
| p.[Arg243Gln]; [Arg252Gln] | 1 | 0 | 1mPKU | / |
| p.[Glu280Lys]; [Ala434Asp] | 1 | 0 | 1mPKU | / |
| p.[Tyr356*]; [Ala434Asp] | 1 | 0 | 1mPKU | / |
| p.[Pro275Ala]; [Tyr356*] | 1 | 1mPKU | 0 | / |
| p.[Arg243Gln]; [Ile324Asn] | 1 | 1mPKU | 0 | / |
| p.[Arg243Gln]; [Met276Lys] | 1 | 1mPKU | 0 | / |
| Total | 16 | 7 | 9 | |
aThe genotypes are described at protein level.