Deletion analysis of SMN1 exon 7 alone may be necessary and sufficient for the diagnosis of spinal muscular atrophy

J Neurogenet. 2011 Mar;25(1-2):15-6. doi: 10.3109/01677063.2011.559561. Epub 2011 Feb 22.

Abstract

The authors suggest a simplification for the current molecular genetic testing of spinal muscular atrophy (SMA). Deletion analysis of SMN1 exon 7 alone may be necessary and sufficient for the diagnosis of SMA. It is based on sole contribution of survival motor neuron 1 (SMN1) exon 7 to SMA pathogenesis.

MeSH terms

  • DNA Mutational Analysis
  • Exons / genetics*
  • Humans
  • Muscular Atrophy, Spinal / diagnosis*
  • Muscular Atrophy, Spinal / genetics*
  • Sequence Deletion / genetics*
  • Survival of Motor Neuron 1 Protein / genetics*

Substances

  • SMN1 protein, human
  • Survival of Motor Neuron 1 Protein