Table 2 Clinical characteristics and GNPTAB mutations in seven patients with ML II/III
| Case no. | Phenotype | Age at Dx. (month) | Sex | Symptoms at diagnosis |
Nucleotide change Nucleotide change | Amino acid change |
|---|---|---|---|---|---|---|
| 1 | III | 3.10 | M | growth retardation, joint contracture, developmental delay |
c.992A > G c.2189delT |
p.Tyr331Cys p.Leu730fs*7 |
| 2 | II | 0.5 | F | developmental delay, synostosis, puffy face |
c.1090C > T c.2666 T > A |
p.Arg364* p.Leu889* |
| 3a | NA | NA | F | normal, prior affected sibling |
c.2681G > A c.3565C > T |
p.Trp894* p.Arg1189* |
| 4a | NA | NA | F | normal, prior affected sibling |
c.310C > T c.3565C > T |
p.Gln104* p.Arg1189* |
| 5 | III | 7.3 | F | mental retardation, asymmetric chest, joint contracture, |
c.637-6 T > G c.2574_2575delGA |
p.Thr213Phefs*11 p.Asn859Glnfs*2 |
| 6 | III | 6.3 | F | joint contracture |
c.637-6 T > G c.2574_2575delGA |
p.Thr213Phefs*11 p.Asn859Glnfs*2 |
| 7 | II | 1.8 | F | growth retardation, joint contracture, puffy face, hepatosplenomegaly |
c.471_472delTT c.1071G > A |
p.Tyr158Serfs*8 p.Trp357* |