Table 3 Panel of SLC39A4 deleterious mutations noted in AE patients
Exon 9 | Exon 3 | Exon 5 | |
|---|---|---|---|
Number of patients | 7 | 4 | 3 |
The gender ratio | 17.15% | 25.00% | 1 |
gene mutation(Main) | missense | missense | missense |
Age of onset (month) | 15.86 + 9.21 | 6.25 + 1.71 | 10.33 + 1.18 |
Perioral(N) | 1 | 1 | 1 |
Torso fold(N) | 5 | 3 | 2 |
Limb end(N) | 6 | 3 | 1 |
Perineum(N) | 1 | 1 | 1 |
Nail involvement(N) | 2 | 3 | 1 |
Alopecia(N) | 3 | 1 | 0 |
Diarrhea(N) | 3 | 3 | 0 |
Growth delay(N) | 1 | 3 | 0 |
Neuropsychiatric disorders(N) | 0 | 1 | 0 |
low serum zinc levels(N) | 1 | 1 | 1 |
therapeutic dose(mg/kg.d) | 2.64 + 1.03 | 4.25 + 1.71 | 1 + 0 |
course of treatment(day) | 14.86 + 2.06 | 12.5 + 2.95 | 14 + 0 |