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

From: Clinical characteristics and mutation Spectrum of NF1 in 12 Chinese families with orbital/periorbital plexiform Neurofibromatosis type 1

Family number NF1 mutation Region Mutation type Mutation site Protein Novel/ previously described
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