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Table 2 Results of 21 PKU families by NIPD and invasive diagnosis

From: Clinical application of non-invasive prenatal diagnosis of phenylketonuria based on haplotypes via paired-end molecular tags and weighting algorithm

Pedigree

Proband

Father

Mother

NIPT results

Invasive test results

Consistency

F01

c.782G>A(p.Arg261Gln) c.194T>C(p.Ile65Thr)

c.194T>C(p.Ile65Thr)

c.782G>A(p.Arg261Gln)

Affected

Affected

Y

F02

c.782G>A(p.Arg261Gln) c.1068C>A(p.Tyr356Ter)

c.782G>A(p.Arg261Gln)

c.1068C>A(p.Tyr356Ter)

Affected

Affected

Y

F03

c.526C>T(p.Arg176Ter) c.1197A>T(p.Val399Val)

c.1197A>T(p.Val399Val)

c.526C>T(p.Arg176Ter)

Paternal mutation carriers

Paternal mutation carriers

Y

F04

c.721C>T(p.Arg241Cys) c.728G>A(p.Arg243Gln)

c.728G>A(p.Arg243Gln)

c.721C>T(p.Arg241Cys)

N

N

Y

F05

c.442-1G>A(p.IVS4-1G>A) c.1197A>T(p.Val399Val)

c.1197A>T(p.Val399Val)

c.442-1G>A(p.IVS4-1G>A)

Paternal mutation carriers

Paternal mutation carriers

Y

F06

c.728G>A(p.Arg243Gln) c.728G>A(p.Arg243Gln)

c.728G>A(p.Arg243Gln)

c.728G>A(p.Arg243Gln)

Paternal mutation carriers

Paternal mutation carriers

Y

F07

c.331C>T(p.Arg111Ter) c.611A>G(p.Tyr204Cys)

c.611A>G(p.Tyr204Cys)

c.331C>T(p.Arg111Ter)

Affected

Affected

Y

F08

c.1194A>G(p.Lys398Lys) c.1238G>C(p.Arg413Pro)

c.1238G>C(p.Arg413Pro)

c.1194A>G(p.Lys398Lys)

Affected

Affected

Y

F09

c.611A>G(p.Tyr204Cys) c.728G>A(p.Arg243Gln)

c.611A>G(p.Tyr204Cys)

c.728G>A(p.Arg243Gln)

Paternal mutation carriers

Paternal mutation carriers

Y

F10

c.611A>G(p.Tyr204Cys) c.782G>A(p.Arg261Gln)

c.611A>G(p.Tyr204Cys)

c.782G>A(p.Arg261Gln)

N

N

Y

F11

c.721C>T(p.Arg241Cys) c.721C>T(p.Arg241Cys)

c.721C>T(p.Arg241Cys)

c.721C>T(p.Arg241Cys)

Paternal mutation carriers

Paternal mutation carriers

Y

F12

c.721C>T(p.Arg241Cys) c.331C>T(p.Arg111Ter)

c.721C>T(p.Arg241Cys)

c.331C>T(p.Arg111Ter)

Maternal mutation carriers

Maternal mutation carriers

Y

F13

c.968C>T(p.Thr241Ile) c.208_210delTCT(p.Ser70del)

c.208_210delTCT(p.Ser70del)

c.968C>T(p.Thr241Ile)

Paternal mutation carriers

Paternal mutation carriers

Y

F14

c.232_235delGAAT(p.Glu78Phefs*13) E5_E6del

c.232_235delGAAT(p.Glu78Phefs*13)

E5_E6del

Maternal mutation carriers

Maternal mutation carriers

Y

F15

c.116_118delTTC(p.Phe39del) c.526C>T(p.Arg176Ter)

c.116_118delTTC(p.Phe39del)

c.526C>T(p.Arg176Ter)

Affected

Affected

Y

F16

c.482T>C(p.Phe161Ser) c.1197A>T(p.Val399Val)

c.482T>C(p.Phe161Ser)

c.1197A>T(p.Val399Val)

N

N

Y

F17

c.722delG(p.Arg241Profs) c.1238G>C(p.Arg413Pro)

c.1238G>C(p.Arg413Pro)

c.722delG(p.Arg241Profs)

Maternal mutation carriers

Maternal mutation carriers

Y

F18

c.728G>A(p.Arg243Gln) c.442-1G>A(IVS4-1G>A)

c.728G>A(p.Arg243Gln)

c.442-1G>A(IVS4-1G>A)

Maternal mutation carriers

Maternal mutation carriers

Y

F19

c.331C>T(p.Arg111Ter) c.1301C>A(p.Ala434Asp)

c.1301C>A(p.Ala434Asp)

c.331C>T(p.Arg111Ter)

N

N

Y

F20

c.728G>A(p.Arg243Gln) c.728G>A(p.Arg243Gln)

c.728G>A(p.Arg243Gln)

c.728G>A(p.Arg243Gln)

Affected

Affected

Y

F21

c.442-1G>A(p.IVS4-1G>A) c.875C>T(p.Pro3292Leu)

c.875C>T(p.Pro3292Leu)

c.442-1G>A(p.IVS4-1G>A)

Maternal mutation carriers

Maternal mutation carriers

Y

  1. c, a mutation in the nucleic acid level; p, mutations in protein levels, Y, consistency represents comparison the NIPT results with invasive testing results; N, normal.