Table 2 Genetic test results of PCD mothers
From: Newborn screening of primary carnitine deficiency: clinical and molecular genetic characteristics
Case | Age | C0 levels, µmol/L | SLC22A5 gene mutation | |||||
|---|---|---|---|---|---|---|---|---|
Initial screening | After treatment | Allele 1 | Allele 2 | |||||
Variants DNA (Protein) | Locations | Variants DNA (Protein) | Locations | |||||
1 | 28 | 1.59 | NA | c.236_271del (p.79_91del)# | Exon 1 | c.1400 C > G (p.S467C) | Exon 8 | |
2 | 27 | 3.38 | NA | c.51 C > G (p.F17L) | Exon 1 | c.1400 C > G (p.S467C) | Exon 8 | |
3 | 29 | 1.69 | NA | c.51 C > G (p.F17L) | Exon 1 | c.1400 C > G (p.S467C) | Exon 8 | |
4 | 29 | 1.51 | NA | c.51 C > G (p.F17L) | Exon 1 | c.1400 C > G (p.S467C) | Exon 8 | |
5 | 35 | 1.31 | 15.13 | c.51 C > G (p.F17L) | Exon 1 | c.1400 C > G (p.S467C) | Exon 8 | |
6 | 29 | 2.40 | NA | c.51 C > G (p.F17L) | Exon 1 | c.1400 C > G (p.S467C) | Exon 8 | |
7 | 27 | 3.08 | NA | c.797 C > T (p.P266L) | Exon 4 | c.1400 C > G (p.S467C) | Exon 8 | |
8 | 30 | 6.39 | NA | c.1400 C > G (p.S467C) | Exon 8 | c.1400 C > G (p.S467C) | Exon 8 | |
9 | 29 | 3.07 | NA | c.1400 C > G (p.S467C) | Exon 8 | c.1400 C > G (p.S467C) | Exon 8 | |
10 | 22 | 2.46 | NA | c.1400 C > G (p.S467C) | Exon 8 | c.1400 C > G (p.S467C) | Exon 8 | |
11 | 35 | 2.83 | 13.75 | c.1400 C > G (p.S467C) | Exon 8 | c.1400 C > G (p.S467C) | Exon 8 | |
12 | 22 | 2.7 | NA | c.1400 C > G (p.S467C) | Exon 8 | c.1400 C > G (p.S467C) | Exon 8 | |
13 | 27 | 1.98 | 12.92 | c.1400 C > G (p.S467C) | Exon 8 | c.1400 C > G (p.S467C) | Exon 8 | |
14 | 28 | 2.45 | 18.21 | c.1400 C > G (p.S467C) | Exon 8 | c.1400 C > G (p.S467C) | Exon 8 | |
15 | 36 | 2.55 | NA | c.1400 C > G (p.S467C) | Exon 8 | c.1400 C > G (p.S467C) | Exon 8 | |
16 | 33 | 2.23 | 20.93 | c.1400 C > G (p.S467C) | Exon 8 | c.1400 C > G (p.S467C) | Exon 8 | |
17 | 28 | 2.04 | NA | c.1400 C > G (p.S467C) | Exon 8 | c.1400 C > G (p.S467C) | Exon 8 | |
18 | 29 | 2.61 | NA | c.1400 C > G (p.S467C) | Exon 8 | c.1400 C > G (p.S467C) | Exon 8 | |
19 | 30 | 2.72 | 8.25 | c.1400 C > G (p.S467C) | Exon 8 | c.1400 C > G (p.S467C) | Exon 8 | |
20 | 25 | 2.45 | NA | c.1400 C > G (p.S467C) | Exon 8 | c.1400 C > G (p.S467C) | Exon 8 | |
21 | 37 | 1.04 | NA | c.760 C > T (p.R254*) | Exon 4 | c.1195 C > T (p.R399W) | Exon 7 | |
22 | 24 | 4.67 | 18.5 | c.51 C > G (p.F17L) | Exon 1 | c.1198 C > T (p.R400C) | Exon 7 | |
23 | 26 | 0.9 | 8.55 | c.865 C > T (p.R289*) | Exon 5 | c.1400 C > G (p.S467C) | Exon 8 | |
24 | 21 | 2.07 | NA | c.384dup (p.V129Cfs*9)# | Exon 1 | c.1400 C > G (p.S467C) | Exon 8 | |
25 | 29 | 1.11 | 12.95 | c.760 C > T (p.R254*) | Exon 4 | c.1400 C > G (p.S467C) | Exon 8 | |
26 | 28 | 1.56 | 6.06 | c.760 C > T (p.R254*) | Exon 4 | c.1400 C > G (p.S467C) | Exon 8 | |
27 | 30 | 1.04 | 16.12 | c.760 C > T (p.R254*) | Exon 4 | c.1400 C > G (p.S467C) | Exon 8 | |
28 | 32 | 1.72 | 7.21 | c.338G > A (p.C113Y) | Exon 1 | c.1400 C > G (p.S467C) | Exon 8 | |
29 | 35 | 2.81 | NA | c.1052 + 3 A> G | Intron6 | c.1400 C > G (p.S467C) | Exon 8 | |
30 | 33 | 1.43 | NA | c.1252 C > T (p.Q418*) | Exon 7 | c.1400 C > G (p.S467C) | Exon 8 | |
31 | 35 | 2.07 | NA | c.51 C > G (p.F17L) | Exon 1 | c.428 C > T (p.P143L) | Exon 2 | |
32 | 33 | 2.08 | 6.71 | c.338G > A (p.C113Y) | Exon 1 | c.428 C > T (p.P143L) | Exon 2 | |
33 | 30 | 3.61 | NA | c.832 C > T (p.P278S) | Exon 5 | c.832 C > T (p.P278S) | Exon 5 | |
34 | 25 | 3.03 | NA | c.428 C > T (p.P143L) | Exon 2 | c.428 C > T (p.P143L) | Exon 2 | |