Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome Academic Article uri icon


MeSH Major

  • Chediak-Higashi Syndrome
  • Proteins
  • Terminator Regions, Genetic


  • Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder in which an immune deficiency occurs in association with pigmentation abnormalities. Most patients who do not undergo bone marrow transplantation die of a lymphoproliferative syndrome, though some patients with CHS have a relatively milder clinical course of the disease. The large size of the LYST gene, defective in CHS, has made it difficult to screen for mutations in a large number of patients. Only 8 mutations have been identified so far, and all lead to a truncated LYST protein. We conducted protein truncation tests on this gene in 8 patients with CHS. Different LYST mutations were identified in all subjects through this approach, strengthening the observation of a high frequency of truncated LYST proteins as the genetic cause of CHS.

publication date

  • February 2000



  • Academic Article



  • eng

PubMed ID

  • 10648412

Additional Document Info

start page

  • 979

end page

  • 83


  • 95


  • 3