Skip to main content

Table 1 Summary of all currently known WISP3 gene mutations in PPD patients in China

From: Delayed-onset of progressive pseudorheumatoid dysplasia in a Chinese adult with a novel compound WISP3 mutation: a case report

No.

Location

Nucleotide change

Amino acid change

References

1

Exon 2

c.105dupT

p.Gly36fs*10

[14]

2

Exon 2

c.208_209insA

/

[8]

3

Exon 2

c.136C > T

p.Gln46*

[2, 8, 13]

4

Exon 3

c.342 T > G

p.Cys114Trp

[8, 12,13,14,15]

5

Exon 3

c.342G > A

p.Cys114Try

[2]

6

Exon 4

c.624delA

p.Lys208fs*24

[14]

7

Exon 4

c.624_625insA

p.Cys209fs*229

[8]

8

Exon 4

c.667 T > G

p.Cys223Gly

[7, 8]

9

Exon 4

c.679dupA

p.Cys227Leufs*21

[15]

10

Exon 4

c.716_722delAAATGAG

p.Glu239fs*16

[12]

11

Exon 4

c.721 T > G

p.Cys241Gly

[15]

12

Exon 4

c.729_735delGAGAAAA

p.Glu243fs*255

[8, 13]

13

Exon 4

c.756C > A

p.Cys252*

[7]

14

Exon 5

c.840delT

p.Phe280Leufs*33

[11]

15

Exon 5

c.866_867insA

p.Gln289fs*31

[8, 12]

16

Exon 5

c.866dupA

p.Ser290Glufs*13

[13]

17

Exon 5

c.857C > G

p.Ser286*

[13]

18

Exon 5

c.1000 T > C

p.Ser334Pro

[11, 12]