Table 1 Clinical course for Patients 1, 2, and 3 with MPS IVA
Patient 1 | Patient 2 | Patient 3 | |
|---|---|---|---|
Current age | 17 years, 8 months | 13 years, 1 month | 6 years, 2 months |
Type of genetic analysis | Whole-exome sequencing | Whole-exome sequencing | Targeted GALNS sequencing |
Results of GALNS gene analysis | c. 964G > C, p. A322P (paternally inherited, novel missense, variant of unknown significance) | ||
c. 611A > G, p. N204S (maternally inherited, novel missense, variant of unknown significance) | |||
Age at onset of symptoms | 5 years | 5 years | 3 years |
Age at diagnosis | 14 years, 7 months | 10 years | 3 years, 1 month |
Age at initiation of ERT | 14 years, 8 months | 10 years, 1 month | 3 years, 2 months |