Table 2 Mutation spectrum of neurofibromin 1 in Chinese orbital-periorbital neurofibromatosis patients

1

Yes

Exon 49

Frameshift deletion

NM_000267: exon49: c.7385_7394del: p.P2462fs,

NM_001042492: exon50: c.7448_7457del: p.P2483fs

P2462fs

previously described

2

Yes

Splicing

/

NM_001042492: exon51: c.7458-1G > C,

NM_000267: exon50: c.7395-1G > C

/

Novel

3

Yes

Exon 17

Missense

SNV

NM_000267: exon17:c.C1919T: p.T640I, NM_001042492: exon17:c.C1919T: p.T640I

p.T640I

Novel

Exon 18

Stop gain

NM_000267: exon18:c.C2041T: p.R681X, NM_001042492: exon18:c.C2041T: p. R681X

p.R681X

previously described

4

Yes

Exon 20

Frameshift deletion

NM_000267: exon20: c.2385delA: p.P795fs, NM_001042492: exon20: c.2385delA:p.P795fs

p.P795fs

Novel

5

Yes

Exon 16

Frameshift deletion

NM_000267: exon16: c.1754_1757del: p.L585 fs, NM_001042492: exon16: c.1754_1757del:p.L585 fs

p.L585 fs

Novel

Exon 17

Missense

SNV

NM_000267: exon17: c. A1933G: p.M645 V, NM_001042492: exon17:c. A1933G:p.M645 V

p.M645 V

previously described

6

Yes

Splicing

/

NM_001042492: exon36: c.4725-1G > A,

NM_000267: exon35: c.4662-1G > A

/

previously described

7

Yes

Exon 21

Missense

SNV

NM_000267: exon21: c. A2683G: p.M895 V, NM_001042492:exon21:c.A2683G: p.M895 V

p.M895 V

previously described

Splicing

/

NM_001042492: exon16: c.1845 + 1G > A,

NM_000267: exon16: c.1845 + 1G > A

/

previously described

8

No

/

/

/

/

/

9

Yes

Exon 12

Stop gain

NM_000267: exon34:c.C4537T: p.R1513X, NM_001042492: exon35:c.C4600T: p.R1534X

p.R440X

previously described

10

Yes

Intron

/

NF1:Ch17: 29665038: T > A

/

Novel

11

Yes

Splicing

/

NM_001042492: exon48: c.7063-2A > G,

NM_000267: exon47: c.7000-2A > G

/

Novel

12

Yes

Exon 34

Stop gain

NM_000267: exon34:c.C4537T: p.R1513X, NM_001042492: exon35:c.C4600T: p.R1534X

p.R1513X

previously described