Table 3.
Genotype, baseline level of α-GLA activity and lyso-GL3, as well as MISSI score of the study cohort.
| Patient No. |
Sex/Age (yr) | Mutation | Variant According to ACMG |
Type of Mutation |
Phenotype | α-GLA Activity (Reference Range > 2.8 µmol/L/h) |
Lyso-GL3 (Reference Range 0–3.5 ng/mL) |
MSSI Score |
|---|---|---|---|---|---|---|---|---|
| 1 | M/17 | c.779G > A | Pathogenic | Missense | Classic | 0.5 | NA | 26 |
| 2 | M/10 | c.797A > C | Pathogenic | Missense | Classic | 0 | 101.1 | 9 |
| 3 | M/41 | c.863C > A | Pathogenic | Missense | Classic | 0.3 | 98 | 24 |
| 4 | M/26 | c.836A > G | Pathogenic | Missense | Classic | 0.13 | 22.5 | 25 |
| 5 | M/44 | c.644A > G | Pathogenic | Missense | Late-onset | 0.4 | 34.6 | 20 |
| 6 | M/39 | c.671delA | Pathogenic | Deletion | Classic | 2 | 5.5 | 32 |
| 7 | M/29 | c.797A > C | Pathogenic | Missense | Classic | 0 | 129.2 | 9 |
| 8 | F/50 | c.797A > C | Pathogenic | Missense | Classic | 1.2 | 6.7 | 33 |
| 9 | F/55 | c.1224del66 | Pathogenic | Deletion | Classic | 1 | 7.6 | 22 |
| 10 | F/49 | c.779G > A | Pathogenic | Missense | Classic | NA | 6.8 | 3 |
| 11 | F/46 | c.797A > C | Pathogenic | Missense | Classic | 0.4 | 10.7 | 14 |
| 12 | F/30 | c.797A > C | Pathogenic | Missense | Classic | 0.7 | 3.9 | 10 |
| 13 | F/35 | c.295C > T | Pathogenic | Nonsense | Classic | 1.5 | 4.4 | 7 |
| 14 | F/63 | c.1228A > G | Pathogenic | Missense | Classic | 1.8 | 4.9 | 42 |
| 15 | F/35 | c.485G > A | Pathogenic | Nonsense | Classic | 0.32 | 5.8 | 14 |
| 16 | F/61 | c.141G > A | Pathogenic | Nonsense | Classic | 3.3 | 3.3 | 13 |
| 17 | M/43 | c.836A > G | Pathogenic | Missense | Classic | 0.1 | 42.3 | 25 |
| 18 | M/32 | c.1121_1123delAAG | Pathogenic | Deletion | Classic | 0.5 | 16.8 | 22 |
| 19 | M/58 | c.295C > T | Pathogenic | Nonsense | Classic | 0.1 | NA | 24 |
| 20 | M/37 | c.485G > A | Pathogenic | Nonsense | Classic | 0.1 | 19.4 | 24 |
| 21 | F/57 | c.485G > A | Pathogenic | Nonsense | Classic | 0.3 | 6.3 | 11 |
α-GLA = α-galactosidase A; lyso-GL3 = globotriaosylsphingosine; MSSI = Mainz Severity Score Index; NA = not available; ACMG = American College of Medical Genetics and Genomics.