[Hutchinson-Gilford progeria syndrome: clinical and molecular analysis in an African patient]

Rev Med Liege. 2007 Mar;62(3):155-8.
[Article in French]

Abstract

Hutchinson-Gilford progeria syndrome (HGPS) is an extremely rare genetic disease characterized by an early onset of several clinical features including premature ageing in children. Approximately 80% of HGPS cases are caused by a de novo single-base pair substitution c.1824 C>T (GGC > GGT, p.Gly608Gly) within the exon 11 of the LMNA gene which codes for lamins A and C proteins. This mutation creates an abnormal splice donor site, leading to the formation of a truncated lamin A protein. Only a very few cases of African patients with HGPS have been reported, but none of them has been characterized at the molecular level. We report here a 12 year-old-girl African patient with HGPS, in whom the p.Gly608Gly heterozygous disease-causing mutation was found.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Africa
  • Aging / genetics
  • Child
  • Chromatography, Liquid
  • Exons
  • Female
  • Glycine
  • Humans
  • Lamin Type A / genetics*
  • Mutation*
  • Pedigree
  • Polymerase Chain Reaction
  • Progeria / diagnosis
  • Progeria / genetics*

Substances

  • LMNA protein, human
  • Lamin Type A
  • Glycine