From: Biochemical and genetic approaches to the prenatal diagnosis of propionic acidemia in 78 pregnancies
Fetus No. | Variants of the proband | Variants of fetus | Metabolite of amniotic fluid | ||||||
---|---|---|---|---|---|---|---|---|---|
(PCCA: NM_000282.3; PCCB: NM_000532.3) | MS/MS | GS/MS | |||||||
Gene | Paternal | Maternal | Fetus status | Variants origin | C3 (μmol/L) | C3/C2 | 3HPA (mmol/mol Cr) | MCA (mmol/mol Cr) | |
F008 | PCCA | c.1429 + 2 T > C | Exon6del | ND | ND | 5.87 | 0.24 | 3.75 | 0.00 |
F042 | PCCA | c.2002G > A [21] | c.872C > T [22] | Normal | – | 2.06 | 0.07 | 41.28 | 0.00 |
F043 | PCCA | ND | c.1284 + 1G > A [23] | ND | ND | 2.77 | 0.17 | 44.42 | 0.19 |
F053 | PCCA | c.1330dup | c.803G > T | Carrier | Paternal | 5.00 | 0.18 | 4.93 | 0.00 |
F044 | PCCB | c.224A > C [16] | ND | ND | ND | 1.040 | 0.07 | 80.65 | 0.00 |
F014 | ND | ND | ND | ND | ND | 1.01 | 0.08 | 43.86 | 0.00 |
F020 | ND | ND | ND | ND | ND | 0.92 | 0.12 | 2.37 | 0.52 |
Reference range |  |  |  |  |  | < 5.0 | < 0.3 | < 35 | < 0.5 |