Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy

Neurogenetics. 2007 Apr;8(2):137-42. doi: 10.1007/s10048-006-0070-0. Epub 2006 Nov 29.

Abstract

The molecular basis of autosomal dominant spinal muscular atrophy (AD-SMA) is largely unknown. Because the phenotypic spectrum of diseases caused by LMNA mutations is extremely broad and includes myopathies, neuropathies, and cardiomyopathies designated as class 1 laminopathies, we sequenced the LMNA gene in index patients with the clinical picture of proximal SMA, who had a family history suggestive of autosomal dominant inheritance. Among the 19 families investigated, two showed pathogenic mutations of the LMNA gene, resulting in the diagnosis of a class 1 laminopathy in about 10% of our series. We found one novel truncating mutation (c.1477C > T, Q493X) and one previously described missense mutation (c.1130G > T, R377H) in the LMNA gene of two unrelated patients with adult-onset proximal SMA followed by cardiac involvement 14 and 22 years after the onset of weakness. The pedigrees of both families revealed a high frequency of cardiac abnormalities or sudden deaths. Our findings extend the spectrum of laminopathies and are of relevance for genetic counseling and clinical care of families presenting with adult-onset proximal SMA. Particularly, if neurogenic atrophy is combined with a cardiac disease in a family, this should prompt LMNA mutation analysis.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Cyclic AMP Response Element-Binding Protein / genetics
  • DNA Mutational Analysis
  • Family
  • Female
  • Heart Diseases / complications*
  • Humans
  • Lamin Type A / genetics*
  • Male
  • Middle Aged
  • Muscle, Skeletal / pathology
  • Muscular Atrophy, Spinal / complications
  • Muscular Atrophy, Spinal / genetics*
  • Muscular Atrophy, Spinal / pathology
  • Mutation*
  • Nerve Tissue Proteins / genetics
  • Pedigree
  • RNA-Binding Proteins / genetics
  • SMN Complex Proteins

Substances

  • Cyclic AMP Response Element-Binding Protein
  • LMNA protein, human
  • Lamin Type A
  • Nerve Tissue Proteins
  • RNA-Binding Proteins
  • SMN Complex Proteins