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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