Table 3.
Identification of heterozygotes and homozygotes with the additional c.613–31A>G (IVS10–31A>G) variant among 273 probands tested for HMBSvariants
| HMBS varianta | c.613–31A>G (IVS10–31A>G) | Africans | Hispanics | Caucasians | ||||
|---|---|---|---|---|---|---|---|---|
| Zygosity | N | % | N | % | N | % | ||
| With a pathogenic | ||||||||
| 8 | Heterozygotes | 5 | 62 | 3 | 37 | 0 | 0 | |
| 3 | Homozygotes | 2 | 67 | 0 | 0 | 1 | 33 | |
| Total | 11 | 7 | 63 | 3 | 27 | 1 | 9 | |
| Without a pathogenic | ||||||||
| 26 | Heterozygotes | 11 | 42 | 5 | 19 | 6 | 23 | |
| 1 | Homozygotes | 1 | 100 | 0 | 0 | 0 | 0 | |
| Total | 27 | 12 | 44 | 5 | 19 | 6 | 22 | |
a
Pathogenic HMBS variants in AIP patients who are heterozygous (p.Gly111Arg, p.Arg116Trp, p.Gly218Arg, p.Gln153His, p.Arg173Trp, p.Arg225Ter, p.Gln332Ter, c.985_996del12, c.613–2A>G, c.912+1G>A) or homozygous (p.Arg167Trp, p.Arg195His, c.613–1G>T, c.478delC) for c.613–31A>G.