Table 1 Mutation studies of 23 patients with MPS II

P1

c.1265G > T

p.C422F

Exon 9

Intermediate

novel

-

P2

c.1265G > T

p.C422F

Exon 9

Intermediate

novel

-

P3

c.1265G > T

p.C422F

Exon 9

Intermediate

novel

-

P4

c.(1007 + 1_1008-1)_ (1180 + 1_1181-1)del

EX8del (cDNA level)

Exon 8

Severe

for further characterization at genomic DNA level

-

P5

c.326G > A

p.W109*

Exon 3

Intermediate

published

Brusius-Facchin et al., 2014 [20]

P6

none detected

-

-

Severe

-

-

P7

c.1403G > A

p.R468Q

Exon 9

Severe

published

Whitley et al., 1993 [24]

P8

c.1403G > A

p.R468Q

Exon 9

Severe

published

Whitley et al., 1993 [24]

P9

c.326G > A

p.W109*

Exon 3

Severe

published

Brusius-Facchin et al., 2014 [20]

P10

c.1403G > A

p.R468Q

Exon 9

Severe

published

Whitley et al., 1993 [24]

P11

none detected

-

-

Severe

-

-

P12

c.[626delT; 629A > G]

p.L209Wfs*4

Exon 5

Severe

novel

-

P13

c.1402C > T

p.R468W

Exon 9

Severe

published

Crotty et al., 1992 [23]

P14

c.223C > T

p.Q75*

Exon 2

Severe

published, de novo

Kato et al., 2005 [25]

P15

c.1461_1462insN[710]

-

Exon 9

Severe

novel, for further characterization

-

P16

none detected

-

-

Severe

-

-

P17

c.263G > A

p.R88H

Exon 3

Severe

published

Rathmann et al., 1996 [22]

P18

c.(254_257)delC

p.P86Rfs*44

Exon 3

Severe

novel

-

P19

none detected

-

-

Intermediate

-

-

P20

c.1226C > G

p.T409R

Exon 9

Attenuated

novel

-

P21

c.361C > T

p.Q121*

Exon 3

Severe

novel, de novo

-

P22

c.257C > T

p.P86L

Exon 3

Global developmental delay

published, de novo

Popowska et al., 1995 [21]

P23

c.514C > T

p.R172*

Exon 5

Severe

published

Flomen et al., 1992 [27]