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Table 4 Subtle mutations of SMN1 gene identified in Chinese SMA patients

From: Subtle mutations in the SMN1 gene in Chinese patients with SMA: p.Arg288Met mutation causing SMN1 transcript exclusion of exon7

Exon/ intron

cDNA mutation

Protein prediction

Mutation type

References

Number of families

Phenotype

5′UTR

c.-39A > G

-

-

Wang CC et al. [21]

1

NA

Exon 1

c.22dupA

p.Ser8LysfsX23

Frameshift

Tsai et al. [18] (first report)

1

I

    

Zeng J et al. [23]

1

I

    

Wang CC et al. [21]

2*

NA

    

This work

3

I、II

Exon 2

c.84 C > T

p.Ser28Ser

Silence

Wang CC et al. [21]

1

NA

Exon 3

c.400 G > A

p.Glu134Lys

Missense

This work

2

II

Exon 5

c.683 T > A

p.Leu228X

Nonsense

Tsai et al. [18] (first report)

1

I

    

Zeng J et al. [23]

1

I

    

This work

2

I、II

Exon 5

c.689C > T

p.Ser230Leu

Missense

Zeng J et al. [19] (first report)

1

I

    

This work

1*

II、III

Exon 6

c.830A > G

p.Tyr277Cys

Missense

This work (first report)

1

II

Intron 6

c.835-1 G > A

-

Splice site

Zhu SY et al. [20]

1

I

Exon 7

c.863 G > T

p.Arg288Met

Missense

Qu YJ et al. [22]

2

I、II

  1. *, indicate these families have two patients who were siblings. NA, not available; mutations in bold are common mutations in Chinese SMA patients.