Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation

Hum Mol Genet. 2006 Aug 15;15(16):2509-22. doi: 10.1093/hmg/ddl172. Epub 2006 Jul 6.

Abstract

LMNA-associated progeroid syndromes have been reported with both recessive and dominant inheritance. We report a 2-year-old boy with an apparently typical Hutchinson-Gilford progeria syndrome (HGPS) due to compound heterozygous missense mutations (p.T528M and p.M540T) in LMNA. Both mutations affect a conserved region within the C-terminal globular domain of A-type lamins, defining a progeria hot spot. The nuclei of the patient showed no prelamin A accumulation. In general, the nuclear phenotype did not correspond to that previously described for HGPS. Instead, honeycomb figures predominated and nuclear blebs with reduced/absent expression of B-type lamins could be detected. The healthy heterozygous parents showed similar nuclear changes, although in a smaller percentage of nuclei. Treatment with a farnesylation inhibitor resulted in accumulation of prelamin A at the nuclear periphery, in annular nuclear membrane plaques and in intra/trans-nuclear membrane invaginations. In conclusion, these findings suggest a critical role for the C-terminal globular lamin A/C region in nuclear structure and support a major contribution of abnormal assembly to the progeroid phenotype. In contrast to earlier suggestions, we show that prelamin A accumulation is not the major determinant of the progeroid phenotype.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Bone and Bones / diagnostic imaging
  • Cell Survival / drug effects
  • Cells, Cultured
  • Child, Preschool
  • Female
  • Fibroblasts / drug effects
  • Fibroblasts / ultrastructure
  • Heterozygote
  • Humans
  • Imaging, Three-Dimensional
  • Immunohistochemistry
  • Lamin Type A / analysis
  • Lamin Type A / genetics*
  • Lovastatin / pharmacology
  • Male
  • Methionine / analogs & derivatives
  • Methionine / pharmacology
  • Models, Molecular
  • Mutation*
  • Nuclear Proteins / metabolism*
  • Progeria / diagnosis
  • Progeria / diagnostic imaging
  • Progeria / etiology*
  • Progeria / genetics*
  • Protein Precursors / metabolism*
  • Protein Prenylation / drug effects
  • Radiography

Substances

  • FTI 277
  • LMNA protein, human
  • Lamin Type A
  • Nuclear Proteins
  • Protein Precursors
  • prelamin A
  • Lovastatin
  • Methionine