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Article

A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome

4 Feb 2011

Abstract excerpt

Chediak Higashi syndrome (CHS) is an autosomal-recessive disorder characterized by oculocutaneous albinism, recurrent infections and a progressive primary neurological disease. Here, we describe two siblings with CHS due to a novel homozygous R1836X mutation in the LYST gene associated with loss of NK cell degranulation and cytotoxicity. While one sibling was born with fair skin and hair and died of...

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PMID: 21488161
DOI: 10.1002/pbc.22878

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