The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease

J Med Genet. 1996 Feb;33(2):132-6. doi: 10.1136/jmg.33.2.132.

Abstract

It has recently been emphasised that a subset of patients with type 2 Gaucher disease die in the neonatal period. This report describes an Afghani family with two conceptuses having severe, prenatally detected Gaucher disease. Mutational analysis showed that the family carried a known complex allele which included mutations at amino acids L444P, A456P, and V460V. Although glucocerebrosidase RNA was present, an affected fetus had virtually no glucocerebrosidase cross reactive material on western analyses. The severe clinical course and pathology observed in these patients resemble that of the null allele Gaucher mouse, and suggest that the absence of glucocerebrosidase activity results in early death.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Afghanistan / ethnology
  • Alleles
  • Animals
  • Base Sequence
  • Cells, Cultured
  • DNA Mutational Analysis
  • Fatal Outcome
  • Fibroblasts / enzymology
  • Fibroblasts / pathology
  • Gaucher Disease / classification
  • Gaucher Disease / enzymology
  • Gaucher Disease / genetics*
  • Gaucher Disease / pathology
  • Genes, Lethal
  • Genes, Recessive
  • Glucosylceramidase / deficiency*
  • Glucosylceramidase / genetics
  • Humans
  • Infant, Newborn
  • Male
  • Mice
  • Mice, Knockout
  • Molecular Sequence Data
  • Phenotype

Substances

  • Glucosylceramidase