Table 5 Types of gene variants in patients with early-onset and late-onset propionic acidemia
Gene | Type of variant | Early-onset (n = 23)a | Late-onset (n = 30) | P valueb | ||
|---|---|---|---|---|---|---|
Allele number | Allele frequency (%) | Allele number | Allele frequency (%) | |||
PCCA | Missense | 7 | 15.2 | 11 | 18.3 | 0.672 |
Frameshift | 8 | 17.4 | 3 | 5.0 | 0.054 | |
Nonsense | 5 | 10.9 | 3 | 5.0 | 0.289 | |
Splicing | 1 | 2.2 | 1 | 1.7 | 1.000 | |
Other | 3 | 6.5 | 0 | 0 | – | |
PCCB | Missense | 14 | 30.4 | 22 | 36.7 | 0.502 |
Frameshift | 5 | 10.9 | 14 | 23.3 | 0.097 | |
Nonsense | 1 | 2.2 | 5 | 8.3 | 0.230 | |
Splicing | 0 | 0 | 0 | 0 | – | |
Other | 2 | 4.3 | 1 | 1.7 | 0.578 | |