Table 1.
Demographic, clinical, biochemical and genetic characteristics of study subjects.
| Case identifier |
Gender | Age at genetic diagnosis |
Age at sampling* |
GLA gene variant |
α-Galactosidase activity |
(normal range) |
Clinical phenotype leading to the genetic diagnosis |
Definite diagnosis |
|---|---|---|---|---|---|---|---|---|
| I | F | 22 | 32 | p.Arg220Ter | (L) 25 nmol/h/mg | (36–80) | Family screening. Left ventricular non- compaction. |
classical |
| II | M | 63 | 64 | p.Phe113Leu | (S) 0.84 pmol/h/spot |
(8.75–15.6) | Hypertrophic cardiomyopathy. | non-classical |
| III | M | 52 | 53 | p.Asn215Ser | (L) 4 nmol/h/mg | (36–80) | Hypertrophic cardiomyopathy. | non-classical |
| IV-P | F | 26 | 37 | p.Arg118Cys | (L) 44 nmol/h/mg | (36–80) | Angiokeratomas. | no FD |
| IV-Fa | M | 53 | 63 | p.Arg118Cys | (L) 25 nmol/h/mg | (22–73) | Family screening: father of case IV-P. | no FD |
| V-P | F | 33 | 38 | p.Arg118Cys | (L) 38 nmol/h/mg | (36–80) | Stroke. | no FD |
| V-Mo | F | 71 | 74 | p.Arg118Cys | ND | Family screening: mother of case V-P. | no FD | |
| VI | F | 39 | 44 | p.Arg118Cys | (L) 40 nmol/h/mg | (36–80) | Stroke. | no FD |
| VII | F | 47 | 49 | p.Asp83Asn | (L) 45 nmol/h/mg | (36–80) | Stroke. | no FD |
| VII-Br¶ | M | 45 | 45 | p.Asp83Asn | (L) 73 nmol/h/mg (P) 13 nmol/h/ml |
(36–80) (6–19) |
Family screening: brother of case VII-P. | no FD |
| VIII | M | 36 | 38 | p.Asn228Ser | (P) 9 nmol/h/ml | (6–19) | Dilated cardiomyopathy; end-stage renal disease. |
no FD |
| IX-P | M | 20 | 30 | c.−10C>T | (L) 68.4 nmol/h/mg |
(79–130) | Stroke. | no FD |
| IX-Si | F | 23 | 34 | c.−10C>T | (L) 65.2 nmol/h/mg |
(79–130) | Family screening: sister of case IX-P. | no FD |
Case identifiers: roman numerals refer to individual pedigrees, P = proband; Fa = proband’s father; Mo = proband’s mother; Si = proband’s sister; Br = proband’s brother.
Gender identifiers: M = male / F = female. Ages reported in full years.
Age at the sampling of plasma and urine for this study.
Not included in the biomarker profile study.
Missense exonic GLA gene sequence variants amino acid code: Arg = arginine; Phe = phenylalanine; Leu = leucine; Asn = asparagine; Ser = serine; Cys = cysteine; Asp = aspartate; Ter = premature stop codon. C>T = cytosine to thymine transition.
(L) leukocyte assay; (P) plasma assay; (S) dried blood spot assay. ND: not determined. FD: Fabry disease.