Send to:

Choose Destination
See comment in PubMed Commons below
Blood. 2000 Feb 1;95(3):979-83.

Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome.

Author information

  • 1Unité de Recherche sur le développement normal et pathologique du système immunitaire INSERM U429, Hôpital Necker-Enfants Malades, Paris, France.


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.

[PubMed - indexed for MEDLINE]
Free full text
PubMed Commons home

PubMed Commons

How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for HighWire
    Loading ...
    Write to the Help Desk