Table 2 Biochemical and genetic characteristics of patients with PCD
From: Increased detection of primary carnitine deficiency through second-tier newborn genetic screening
No | Gender | NC0 levels (μmol/L) | RC0 levels (μmol/L) | Screened by MassArray assay | Confirmed by NGS | ||
|---|---|---|---|---|---|---|---|
Allele 1 | Allele 2 | Allele 1 | Allele 2 | ||||
1 | Male | 1.96 | 1.73 | c.760C > T | c.51C > G | c.760C > T | c.51C > G |
2 | Female | 2.40 | 1.44 | c.760C > T | c.760C > T | c.760C > T | c.760C > T |
3 | Male | 5.78 | 10.67 | c.760C > T | c.797C > T | c.760C > T | c.797C > T |
4 | Male | 5.95 | 8.64 | c.695C > T | NF | c.695C > T | c.1160A > G |
5 | Female | 7.27 | 6.66 | c.760C > T | c.797C > T | c.760C > T | c.797C > T |
6 | Female | 5.58 | 5.59 | c.760C > T | c.1400C > G | c.760C > T | c.1400C > G |
7 | Female | 5.34 | 6.02 | c.797C > T | NF | c.797C > T | c.394-1G > A |
8 | Female | 1.78 | 1.90 | c.695C > T | c.1139C > T | c.695C > T | c.1139C > T |
9 | Male | 4.34 | 4.45 | c.51C > G | c.51C > G | c.51C > G | c.51C > G |
10 | Female | 4.75 | 4.16 | c.760C > T | NF | c.760C > T | c.845G > A |
11 | Female | 3.45 | 5.24 | c.760C > T | c.1400C > G | c.760C > T | c.1400C > G |
12 | Female | 6.82 | 5.02 | c.760C > T | c.1400C > G | c.760C > T | c.1400C > G |
13 | Male | 2.19 | 2.12 | NF | NF | c.822G > A | c.782_799del |
14 | Male | 2.73 | 9.84 | c.51C > G | NF | c.51C > G | c.1144_1162del |
15 | Male | 3.00 | 10.81 | c.51C > G | c.1400C > G | c.51C > G | c.1400C > G |
16 | Male | 6.46 | 5.10 | c.695C > T | c.1400C > G | c.695C > T | c.1400C > G |
17 | Male | 3.02 | 1.77 | c.760C > T | c.760C > T | c.760C > T | c.760C > T |
18 | Female | 6.77 | 10.05 | c.1400C > G | c.1400C > G | c.1400C > G | c.1400C > G |
19 | Female | 2.36 | 1.75 | c.760C > T | c.760C > T | c.760C > T | c.760C > T |
20 | Female | 3.12 | 2.88 | c.760C > T | c.51C > G | c.760C > T | c.51C > G |
21 | Male | 3.64 | 3.80 | c.695C > T | c.1139C > T | c.695C > T | c.1139C > T |
22 | Female | 3.56 | 4.31 | c.760C > T | c.1139C > T | c.760C > T | c.1139C > T |
23 | Female | 6.27 | 3.43 | c.695C > T | c.1139C > T | c.695C > T | c.1139C > T |
24 | Female | 2.70 | 3.46 | c.760C > T | c.51C > G | c.760C > T | c.51C > G |
25 | Male | 7.35 | 14.27 | c.338G > A | c.338G > A | c.338G > A | c.338G > A |