Correlation of PLS3 expression with disease severity in children with spinal muscular atrophy

J Hum Genet. 2014 Jan;59(1):24-7. doi: 10.1038/jhg.2013.111. Epub 2013 Oct 31.


Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disease in children caused by homozygous deletion of the survival motor neuron 1 gene (SMN1). Plastin 3 (PLS3) has been identified as a protective modifier of SMA. We analyzed the levels of PLS3 expression in peripheral blood from 65 children with SMA and 59 healthy controls by using real-time PCR. In healthy controls, younger children (3 years) showed >1.75-fold higher levels of PLS3 expression than did older child cohorts (∼3-6 years, ∼6-12 years and >12 years). In the older female subjects with SMA (>3 years), PLS3 expression was 56.7% lower in type II subjects than in type III patients (P=0.011). When these female subjects carried three copies of SMN2, PLS3 expression was 62.6% lower in the type II subjects than in type III subjects (P=0.008). Moreover, there was a trend toward higher PLS3 expression in older female patients who could walk unaided (>3 years and SMN2 copy number=3) than those who could not. However, these differences were not observed in male subjects examined by SMA clinical type and SMN2 copy number (P>0.05). We concluded that the PLS3 gene may have an age- and gender-specific role in the clinical severity of SMA in children afflicted with this condition.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Age Factors
  • Case-Control Studies
  • Child
  • Child, Preschool
  • Female
  • Gene Dosage
  • Gene Expression*
  • Humans
  • Infant
  • Infant, Newborn
  • Male
  • Membrane Glycoproteins / genetics*
  • Microfilament Proteins / genetics*
  • Muscular Atrophy, Spinal / diagnosis*
  • Muscular Atrophy, Spinal / genetics*
  • Severity of Illness Index
  • Sex Factors
  • Survival of Motor Neuron 2 Protein / genetics


  • Membrane Glycoproteins
  • Microfilament Proteins
  • Survival of Motor Neuron 2 Protein
  • plastin