Two novel CHS1 ( LYST) mutations: Clinical correlations in an infant with Chediak–Higashi syndrome

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 a...

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Published in:Molecular genetics and metabolism 2005-06, Vol.85 (2), p.125-132
Main Authors: Zarzour, Wafika, Kleta, Robert, Frangoul, Haydar, Suwannarat, Pim, Jeong, Anna, Kim, Su Young, Wayne, Alan S., Gunay-Aygun, Meral, White, James, Filipovich, Alexandra H., Gahl, William A.
Format: Article
Language:English
Subjects:
BEACH
Blood Platelets - ultrastructure
Chediak-Higashi Syndrome - genetics
Chediak-Higashi Syndrome - pathology
Chediak–Higashi syndrome
CHS1
Codon, Nonsense
Exons
Hair - ultrastructure
Heterozygote
Humans
Infant
LYST
Male
Microscopy, Electron, Transmission
Mutation analysis
Neutrophils - ultrastructure
Proteins - genetics
Vesicular Transport Proteins
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Summary: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 C > T, CGA > 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.
ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2005.02.011