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Blood. 2000 Feb 1;95(3):979-83.

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

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

Abstract

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.

PMID:
10648412
[PubMed - indexed for MEDLINE]
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