Skip to main content

Table 1 VP Argentinean families: biochemical and molecular data

From: Genetic and biochemical studies in Argentinean patients with variegate porphyria

    

Urine

      

Family

 

Sex

Age

ALA (mg/24 h)

PBG (mg/24 h)

PORPH (ug/24 h)

Blood IPP

Fecal Porph (ug/w)

Symp (C/A)

Mutation/Defect

I

P

F

35

2.4

2.9

1212

8.80

896

+/-

c.471G>A/del exon5

 

M

F

64

1.2

1.1

120

1.21 (619)

70

-/-

c.471G>A/del exon5

 

F

M

64

1.4

1.1

77

1.10 (619)

80

-/-

-------

 

Si

F

27

1.2

2.4

1975

9.20

371

+/-

c.471G>A/del exon5

II

P

F

45

4.8

6.9

1510

9.71

659

+/+

c.807 G>A/r.spl?

III

P

F

35

9.2

21.6

4032

7.80

485

+/+

c.808-1G>C/r.spl?

 

C

F

28

1.1

0.8

97

1.70

127

-/-

c.808-1G>C/r.spl?

 

C

F

33

ND

ND

ND

ND

ND

-/-

c.808-1G>C/r.spl?

IV

P

F

40

2.5

4.2

1814

6.50

2078

+/+

c.338+3insT/r.spl?

V

P

F

26

1.3

1.6

149

10.40

2411

+/-

c.101A>T/p.E34V

 

Si

F

31

1.2

2.1

539

6.00

1208

+/-

c.101A>T/p.E34V

VI

P

F

16

8.0

18.5

2619

10.12

ND

-/+

c.101A>T/p.E34V

VII

P

F

28

2.0

1.9

948

8.00

428

-/+

c. 995 G>C/pG332A

 

F

M

60

1.6

2.0

30

1.12 (619)

78

-/-

c. 995 G>C/pG332A

 

D

F

8

0.6

0.9

82

1.10 (619)

85

-/-

-------

 

Si

F

25

2.6

2.0

5

2.28

271

-/-

c. 995 G>C/pG332A

 

A

F

57

1.7

2.2

52

4.27

52

-/+

c. 995 G>C/pG332A

 

C

F

21

0.6

0.9

30

1.24 (619)

79

-/-

-------

 

C

F

15

1.2

0.9

40

1.28 (619)

85

-/-

c. 995 G>C/pG332A

 

A

F

89

ND

ND

ND

ND

ND

-/-

-------

VIII

P

F

40

2.4

4.2

874

5.50

1030

+/+

c.670T>G/p.W224R

 

D

F

17

1.4

1.3

2

1.30 (619)

ND

-/-

-------

 

D

F

15

0.9

1.4

34

1.28 (619)

ND

-/-

c.670T>G/p.W224R

 

A

F

45

2.5

2.3

450

11.77

893

+/+

c.670T>G/p.W224R

 

C

F

23

1.4

1.5

25

1.06 (619)

307

-/-

-------

IX

P

M

49

1.8

1.8

2291

10.00

2102

+/-

c.133delT/S45fsX67

X

P

F

28

1.4

2.6

330

13.5

688

+/+

c.925delA/p.I309fsX314

XI

P

F

37

1.2

3.2

801

12.6

1314

-/+

C.694 G>C/G232R

XII

P

M

29

6.5

7.7

765

4.60

250

-/+

c.1082insC/p.S359fsX377

 

Si

F

35

3.6

3.2

742

4.20

230

-/+

c.1082insC/p.S359fsX377

 

D

F

16

0.5

1.4

25

1.30

ND

-/-

-------

 

Ni

F

18

1.1

2.1

158

1.30 (616)

ND

-/-

c.1082insC/p.S359fsX377

XII

P

F

38

1.6

2.7

985

5.50

2913

+/+

1043InsT/Y348fsX349

XIV

P

M

29

2.3

9.0

2375

7.25

1197

+/-

1043InsT/Y348fsX349

XV

P

M

24

4.9

3.3

1355

17.50

2141

+/-

1043InsT/Y348fsX349

 

B

M

23

ND

ND

ND

2.16

ND

-/-

1043InsT/Y348fsX349

 

Si

F

31

ND

ND

ND

1.20 (619)

ND

-/-

-------

XVI

P

F

39

12.7

36.3

1202

9.22

936

+/+

1043InsT/Y348fsX349

XVII

P

F

28

8.9

14.5

3502

5.30

1739

+/+

1043InsT/Y348fsX349

XVIII

P

F

28

5.7

24.0

3527

13.50

ND

-/+

1043InsT/Y348fsX349

XIX

P

F

37

6.1

8.7

1321

11.50

964

+/-

1043InsT/Y348fsX349

 

D

F

10

1.2

1.5

87

1.25

ND

-/-

1043InsT/Y348fsX349

 

D

F

13

1.4

1.1

65

1.23

ND

-/-

-------

 

So

M

6

1.0

ND

64

1.30 (618)

ND

-/-

-------

 

Si

F

34

ND

ND

ND

1.18 (618)

ND

-/-

1043InsT/Y348fsX349

XX

P

F

33

2.0

4.0

1045

8.80

616

+/-

1043InsT/Y348fsX349

 

M

F

59

1.5

3.1

390

7.30

515

+/-

1043InsT/Y348fsX349

 

D

F

13

1.3

2.0

96

1.30

92

-/-

-------

 

So

M

8

ND

ND

ND

ND

ND

-/-

-------

 

B

M

29

ND

ND

ND

ND

ND

-/-

-------

XXI

P

F

50

1.3

2.3

2364

6.00

1376

+/+

1043InsT/Y348fsX349

XXII

P

F

29

1.5

3.7

317

11.20

1329

+/-

1043InsT/Y348fsX349

 

M

F

60

1.2

2.0

26

1.25 (619)

36

-/-

-------

 

D

F

17

ND

ND

ND

ND

ND

-/-

1043InsT/Y348fsX349

 

D

F

16

ND

ND

ND

ND

ND

-/-

-------

 

Si

F

22

1.4

2.0

67

1.25 (619)

ND

-/-

1043InsT/Y348fsX349

 

Si

F

35

1.1

1.5

38

1.06 (619)

ND

-/-

-------

 

Si

F

35

3.2

2.4

529

1.60 (619)

548

+/-

1043InsT/Y348fsX349

 

Ni

F

15

ND

ND

ND

5.33

ND

-/-

1043InsT/Y348fsX349

 

Ni

F

10

ND

ND

ND

1.90

ND

-/-

1043InsT/Y348fsX349

 

Ni

F

15

ND

ND

ND

1.28 (619)

ND

-/-

-------

 

C

F

42

2.2

1.9

47.5

1.25

46

-/-

-------

XXIII

P

F

24

6.4

8.2

1108

7.10

1529

+/+

c.503G>A/p.R168H

 

So

M

18

1.1

1.2

35

1.15 (619)

ND

-/-

c.503G>A/p.R168H

 

So

M

16

2.0

1.5

31

1.02 (619)

ND

-/-

-------

 

So

M

19

0.9

0.6

86

120

ND

-/-

c.503G>A/p.R168H

 

Si

F

35

ND

ND

ND

3.15

1281

+/-

c.503G>A/p.R168H

XXIV

P

F

4

2.8

6.2

488

7.00

1705

+/-

C.745delG/V251fsX272

 

M

F

30

1.9

2.9

65

3.20

563

+/-

C.745delG/V251fsX272

 

A

F

28

3.0

2.0

114

5.33

2491

+/-

C.745delG/V251fsX272

XXV

P

F

27

3.1

4.0

870

5.40

1592

+/-

c.532T>G/p.L178V

XXVI

P

F

39

4.4

6.2

307

5.33

1214

+/-

c.317A>C/p.H106P

  1. Clinical and biochemical symptoms at the age of diagnosis, as well as the presence or absence of mutation in the PPOX gene, for all the Argentinean VP patients and the available relatives studied at molecular level are shown. Methodology was as described by Batlle et al, 1997 (30). Normal values were: ALA: 2–4 mg/24 h; PBG: 1–2 mg/24 h; urinary porphyrins: up to 250 μg/24 h; faecal porphyrins: up to 130 μg/dw; PPI: up to 1.30 at λ = 618. P: proband, M: mother, F: father, Si: sister, B: brother, D: daughter, So: son, A: aunt, C: cousin, Ni: niece. Probands of the families XIX to XXVI have been previously studied. All families that carried the 1043insT (families to XIII to XXI) are shown.
  2. sAcute symptoms included abdominal pain, paresthesia, muscle weakness, paralysis and/or data of at least one acute attack. Cutaneous symptoms included blisters, erosions, scaring in sun exposed areas and hyperthricosis. Probands of the families XII, XIII and XVI came first with only cutaneous symptoms but they have also clinical data of neurological manifestations.
Back to article page

BMC Medical Genetics

ISSN: 1471-2350

Contact us