Evidence for preferential X-chromosome inactivation in a family with Fabry disease

Am J Hum Genet. 1977 Jul;29(4):361-70.

Abstract

Severe clinical signs of Fabry disease were observed in four of eight heterozygous daughters of a male patient. Activities of alpha-galactosidase A in serum, white blood cells, and hair roots of the manifesting carriers were markedly lower than 50% of normal. These findings are not easy to interpret in terms of random X inactivation alone; several alternative models including nonrandom (preferential) X inactivation are discussed.

MeSH terms

  • Blood Group Antigens
  • Color Perception
  • Fabry Disease / enzymology
  • Fabry Disease / genetics*
  • Female
  • Fibroblasts / enzymology
  • Galactosidases / analysis
  • Galactosidases / deficiency
  • Genetic Linkage
  • Hair / enzymology
  • Heterozygote
  • Humans
  • Leukocytes / enzymology
  • Male
  • Models, Biological
  • Pedigree
  • Sex Chromosomes*

Substances

  • Blood Group Antigens
  • Galactosidases