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Table 1 Genotypes and phenotypes of 37 PKU families

From: Identification of phenylketonuria patient genotypes using single-gene full-length sequencing

Patients

Age

Pre-treatment Phe levels (μmol/L)

Genotypesa

Classification

1

4y9d

606

c.[1065 + 241C > A];[208_210del]

mPKU

2

1m17d

2340

c.[1199 + 502A > T];[442-1G > A]

cPKU

3

5m20d

2622

c.[1030G > A];[1199 + 502A > T]

cPKU

4

1 m

1548

c.[740G > T];[1199 + 502A > T]

cPKU

5

7y

NAb

c.[1068C > A];[1199 + 502A > T]

cPKU

6

2m14d

540

c.[992 T > C];[?]

mPKU

7

6m12d

796

c.[1065 + 241C > A];[728G > A]

mPKU

8

3m5d

2099

c.[929C > T];[1199 + 502A > T]

cPKU

9

1m21d

696

c.[1199 + 502A > T];[722G > A]

mPKU

10

1m7d

3660

c.[331C > T];[1199 + 502A > T]

cPKU

11

2m2d

792

c.[707-59C > G];[1084C > A]

mPKU

12

17 m

1686

c.[1199 + 502A > T];[611A > G]

cPKU

13

1m17d

456

c.[1301C > A];[1065 + 241C > A]

mPKU

14

1m13d

900

c.[1199 + 502A > T];[1045 T > G]

mPKU

15

3y3m

2700

c.[1199 + 502A > T];[781C > T;1256A > G]

cPKU

16

1m6d

414

c.[1023G > C];[1065 + 241C > A]

mPKU

17

6y10m

936

c.[728G > A];[1065 + 241C > A]

mPKU

18

1m8d

828

c.[1162G > A];[?]

mPKU

19

2m5d

780

NA

mPKU

20

1m10d

840

c.[482 T > C];[1065 + 241C > A]

mPKU

21

26d

528

c.[707-59C > G];[208_210del]

mPKU

22

1m5d

1140

c.[1199 + 502A > T];[332G > A;1301C > A]

mPKU

23

30d

1494

c.[740G > T];[1199 + 502A > T]

cPKU

24

1m2d

720

c.[913-7A > G];[1199 + 502A > T]

mPKU

25

8y3m

1506

c.[1065 + 241C > A];[331C > T]

cPKU

26

1 m

1920

c.[706 + 629A > C];[526C > T]

cPKU

27

4m3d

2058

c.[158G > A;842 + 2 T > A];[1199 + 502A > T]

cPKU

28

1m20d

540

c.[1065 + 241C > A];[331C > T]

mPKU

29

1m9d

2274

c.[755G > A];[?]

cPKU

30

1m14d

1560

c.[611A > G];[1065 + 241C > A]

cPKU

31

21d

360

c.[251A > G];[1199 + 502A > T]

mPKU

32

1m2d

2160

c.[1199 + 502A > T];[158G > A;842 + 2 T > A]

cPKU

33

1y8m

1140

c.[728G > A];[1199 + 502A > T]

mPKU

34

1m6d

450

c.[284_286del];[1065 + 241C > A]

mPKU

35

16y

1860

c.[158G > A;842 + 2 T > A];[1199 + 502A > T]

cPKU

36

1m10d

2160

c.[1199 + 502A > T];[442-1G > A]

cPKU

37

2m11d

558

c.[728G > A];[1065 + 241C > A]

mPKU

  1. The novel variant is shown in bold
  2. NA: Not identified, cPKU: classic PKU(Phe ≥ 1,200 μmol/L), mPKU: mild PKU(Phe 360–1200 μmol/L)
  3. aReference sequence of variants is NM_000277.3
  4. bPatient 5 was clinically diagnosed as classic PKU by musty odor from skin and urine, fair skin and intellectual disability
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Human Genomics

ISSN: 1479-7364