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Table 2 Clinical characteristics and GNPTAB mutations in seven patients with ML II/III

From: Clinical, biochemical and molecular characterization of Korean patients with mucolipidosis II/III and successful prenatal diagnosis

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*
  1. aPrenatal test, Dx diagnosis, NA not applicable