Table 4

Subtle mutations of SMN1 gene identified in Chinese SMA patients
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

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

Yu-jin et al.

Yu-jin et al. BMC Medical Genetics 2012 13:86   doi:10.1186/1471-2350-13-86

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