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Table 3 Genotypes in each clinical phenotype

From: Neonatal screening and genotype-phenotype correlation of hyperphenylalaninemia in the Chinese population

Clinical phenotype

Confirmatory level of Phe (µmol/L)

Genotype

Number of patients

cPKU

1849.1 ± 454.16

p.Arg243Gln / p.Arg243Gln

3/47

p.Arg241Pro / p.Arg243Gln

1/47

p.Arg241Cys / c.442-1G > A

1/47

p.Arg413Pro/ -

1/47

p.Arg413Pro/ p.Arg413Pro

1/47

p.Tyr204Cys/ -

1/47

p.Tyr204Cys/ p.Arg413Pro

1/47

p.Arg111Ter / p.Ser349Ala

1/47

p.Ile324Asn / p.Arg243Gln

1/47

p.Arg252Gln/ c.1315 + 5G > C

1/47

c.168 + 5G > C/ p.Tyr204Cys

1/47

p.Ala434Asp/ c.353-2 A > T

1/47

p.Arg111Ter / p.Arg243Gln

1/47

mPKU

650.0 ± 242.99

p.Tyr204Cys/ p.Ala434Asp

1/47

p.Tyr204Cys/p.Ser349Ala

1/47

p.Arg241Cys /p.Arg408Trp

1/47

p.Arg243Gln / p.Arg241Cys

1/47

p.Ile65Thr / p.Val399=

1/47

p.Arg111Ter /p.Asp415Asn

1/47

c.84-291 A > G / c.84-291 A > G

1/47

MHP

151.7 ± 36.88

p.Arg53His / p.Arg158Trp

1/47

p.Arg53His / p.Arg241Cys

1/47

p.Arg53His / p.Tyr204Cys

1/47

p.Arg53His / p.Ser349Ala

1/47

p.Arg53His / c.442-1G > A

1/47

p.Arg53His / p.Arg243Gln

1/47

p.Arg53His / p.Ala165Asp

1/47

p.Arg53His / c.509 + 5delG

1/47

p.Arg241Cys / p.Ser349Ala

1/47

p.Arg241Cys / p.Ala322Thr

1/47

p.Phe392Ile/ p.Ala322Asp

2/47

p.Arg155His / p.Ala434Asp

1/47

p.Val399=/ p.Asn52Ser

1/47

c.442-1G > A/ p.Arg176Gln

1/47

p.Tyr356Ter/ p.Phe392Ile

2/47

p.Asp75His / p.His220Pro

1/47

p.Arg243Gln / p.Val230Ile

1/47

p.Arg169Ser / p.Arg243Gln

1/47

p.Arg241fs / p.Asp101Asn

1/47

p.Asp101Asn / p.Tyr204Cys

1/47

p.Arg413Pro/ p.Arg176Gln

1/47

c.61-907T > C/ p.Val245=

1/47

p.Cys217Arg / p.Glu375Glu

1/47

  1. -, undetected mutation