Table 2.
Allelic combinations and phenotype distribution of Estonian PKU patients
| Genotype (mutations in the PAH gene) | Number of patients | Frequency (%) | Phenotype |
|---|---|---|---|
| p.[Arg408Trp];[Arg408Trp] c.1222 [C>T];[C>T] | 58 | 62 | Classical PKU |
| p.[Arg408Trp];[Leu48Ser] c.[1222C>T];[143T>C] | 4 | 4.3 | 3 classical PKU/1 BH4-responsive PKU |
| p.[Arg408Trp];[(?)/IVS12+1G>A] c.[1222C>T];[1315+1G>A] | 3 | 3.2 | Classical PKU |
| p.[Arg408Trp];[Pro281Leu] c.[1222C>T];[842C>T] | 2 | 2.1 | Classical PKU |
| p.[Arg408Trp];[Arg261Gln] c.[1222C>T];[782G>A] | 4 | 4.3 | 2 classical PKU/2 BH4-responsive PKU |
| p.[Arg408Trp];[Glu390Gly] c.[1222C>T];[1169A>G] | 1 | 1.1 | BH4-responsive PKU |
| p.[Arg158Gln];[(?)/IVS12+1G>A] c.[473>A];[1315+1G>A] | 1 | 1.1 | Classical PKU |
| p.[Arg408Trp];[Gln355_Tyr356insGlyLeuGln/IVS10-11G>A] c.[1222C>T];[1066-11G>A] | 1 | 1.1 | Classical PKU |
| p.[Arg408Trp];[Arg252Trp] c.[1222C>T];[754C>T] | 4 | 4.3 | Classical PKU |
| p.[Arg408Trp];[Asp222*] c.[1222C>T];[c.663_664delAG] | 2 | 2.1 | Classical PKU |
| p.[Arg408Trp];[Ser349Pro] c.[1222C>T];[1045T>C] | 1 | 1.1 | Classical PKU |
| p.[Arg408Trp];[Ile306Val] c.[1222C>T];[916A>G] | 2 | 2.1 | Mild HPA |
| p.[Arg408Trp];[Glu280Lys] c.[1222C>T];[838G>A] | 2 | 2.1 | Classical PKU |
| p.[Leu48Ser];[Glu280Lys] c.[143T>C];[838G>A] | 1 | 1.1 | Classical PKU |
| p.[Arg408Trp];[Ile65Thr] c.[1222C>T];[194T>C] | 1 | 1.1 | Classical PKU |
| p.[Arg408Trp];[Ala300Ser] c.[1222C>T];[898G>T] | 2 | 2.1 | Mild HPA |
| p.[Arg408Trp];[Ala403Val] c.[1222C>T];[1208C>T] | 1 | 1.1 | Mild PKU |
| p.[Arg408Trp];[NA] c.[1222C>T];[NA] | 1 | 1.1 | Classical PKU |
| p.[Arg408Trp];[NA] c.[1222C>T];[NA] | 1 | 1.1 | Mild PKU |
| c.[NA];[NA] (no DNA) | 2 | 2.1 | Classical PKU |
| Total | 94 | 100 |