Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
10834947 | Molecular Genetics and Metabolism | 2005 | 8 Pages |
Abstract
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by variable degrees of oculocutaneous albinism, recurrent infections, and a mild bleeding tendency, with late neurologic dysfunction. Most patients also undergo an accelerated phase of lymphohistiocytosis and die at an early age unless they receive an allogeneic hematopoietic stem cell transplant (SCT). Mutations in the CHS1 (LYST) gene result in CHS. Here, we describe an adopted infant who is compound heterozygous for two novel CHS1 gene mutations, both of which are predicted to result in truncated proteins. The two mutations are a nonsense mutation (c.1540 CÂ >Â T, CGAÂ >Â TGA, R514X) in exon 5 and a one base pair deletion (del c.9893T, F3298fsX3304) in exon 43, coding for part of the CHS1 protein's BEACH domain. These two newly described mutations are expected to give rise to a severe phenotype and, indeed, the patient had absolutely no cytotoxicity by natural killer cells or cytotoxic lymphocytes prior to his allogeneic SCT.
Related Topics
Life Sciences
Biochemistry, Genetics and Molecular Biology
Biochemistry
Authors
Wafika Zarzour, Robert Kleta, Haydar Frangoul, Pim Suwannarat, Anna Jeong, Su Young Kim, Alan S. Wayne, Meral Gunay-Aygun, James White, Alexandra H. Filipovich, William A. Gahl,