Levels of fl-SMN1 transcripts in controls, carriers and patients with subtle mutations. The dark horizontal lines indicate the 95% confidence interval. The empty circle indicate the median. Fl-SMN1 transcript levels were significantly different between normal controls and healthy carriers. The levels of transcripts in patients were significantly reduced compared with those in controls. Fl-SMN1 transcript levels in patients with the p.Arg288Met mutation were almost undetectable. In patients with p.Ser8LysfsX23 or p.Leu228X mutations, transcript levels were severely reduced. In the patient carrying the novel p.Tyr277Cys mutation, transcript levels were decreased, while patients with missense mutations (p.Ser230Leu and p.Glu134Lys) showed no significantly decrease compared with carriers.
Yu-jin et al. BMC Medical Genetics 2012 13:86 doi:10.1186/1471-2350-13-86