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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.