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

@article{Kaya2011ANS,
  title={A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome.},
  author={Z{\"u}hre Kaya and Stephan Ehl and Meryem Albayrak and Andrea Maul-Pavicic and Klaus Schwarz and Ulker Koçak and Mehmet Ali Ergun and Turkiz Gursel},
  journal={Pediatric blood & cancer},
  year={2011},
  volume={56 7},
  pages={1136-9}
}
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 hemophagocytic lymphohistiocytosis (HLH) at 5 months of age, the other sibling had dark black… CONTINUE READING
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