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

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*

3^a

NA

NA

F

normal, prior affected sibling

c.2681G > A

c.3565C > T

p.Trp894*

p.Arg1189*

4^a

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*