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) | 2MCA (mmol/mol Cr) | |
F001 | PCCA | c.1850 T > C [16] | c.1102G > C [16] | ND | ND | 6.06 | 0.62 | 9.57 | 2.05 |
F009 | PCCA | c.1429 + 2 T > C | Exon6del | Affected | Parental | 43.69 | 1.33 | 21.20 | 1.27 |
F029 | PCCA | c.1118 T > A [17] | c.1863delA | Affected | Parental | 7.44 | 0.70 | 1.90 | 0.87 |
F069 | PCCA | c.1118 T > A [17] | c.1118 T > A [17] | Affected | Parental | 16.55 | 0.92 | 1.10 | 0.74 |
F034 | PCCB | c.31_40del [18] | c.733G > A [16] | Affected | Parental | 10.66 | 1.06 | 25.18 | 3.56 |
F035 | PCCB | c.146delG [16] | c.838dupC [16] | Affected | Parental | 11.45 | 1.00 | 8.36 | 4.58 |
F052 | PCCB | c.838dupC [16] | c.167_179delinsC [16] | Affected | Parental | 29.66 | 0.83 | 0.00 | 1.19 |
F060 | PCCB | c.1228C > T [19] | c.838dupC [16] | Affected | Parental | 13.33 | 2.11 | 3.65 | 1.04 |
F070 | PCCB | c.1196C > G | Exon1-8del | Affected | Parental | 25.10 | 1.21 | 2.94 | 0.62 |
F073 | PCCB | c.1087 T > C [20] | c.1087 T > C [20] | Affected | Parental | 10.15 | 0.69 | 0.00 | 1.15 |
F074 | PCCB | c.1220del | c.167_179delinsC [16] | Affected | Parental | 5.07 | 0.63 | 0.00 | 0.61 |
F017 | ND | ND | ND | ND | ND | 9.40 | 1.43 | 1.51 | 2.73 |
F023 | ND | ND | ND | ND | ND | 15.83 | 1.39 | 5.02 | 2.32 |
Reference range |  |  |  |  |  | < 5.0 | < 0.3 | < 35 |  |