Chediak-Higashi syndrome: Novel mutation of the CHS1/LYST gene in 3 Omani patients

Salem Al-Tamemi*, Shoaib Al-Zadjali, Fahad Al-Ghafri, David Dennison

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

8 Citations (Scopus)

Abstract

Background: Chediak-Higashi syndrome (CHS) is a rare, autosomal, recessive lysosomal disorder with hematological and immunologic abnormalities; however, stem-cell transplantation from a matched or related donor may be curative. Many mutations of the CHS1/LYST gene have been reported to date. We report a novel nonsense mutation of the CHS1/LYST gene in 3 Omani patients. Methods and Results: Three patients from 2 different families presented with clinical and laboratory features of CHS and a history of death of a previous sibling because of a severe illness, suggestive of the accelerated phase of CHS. Giant granules were present in the myeloid cell lines. Before the stem-cell transplant, the first patient underwent gene sequencing of all exons of the lysosome trafficking regulator (CHS1/LYST) gene and revealed a nonsense mutation in exon 5 (c.925C > T, p.R309X). Subsequently, upon presentation, the second and third patients' direct gene sequencing of exon 5 revealed the same mutation. Conclusions: We report a nonsense mutation in exon 5 (c.925C > T, p.R309X). This supports the allelic heterogeneity of CHS and is in line with most reported mutation types that lead to a truncated protein. Identification of the mutation type will facilitate timely diagnosis, management, and family counseling for those with affected children in Oman.

Original languageEnglish
JournalJournal of Pediatric Hematology/Oncology
Volume36
Issue number4
DOIs
Publication statusPublished - 2014

Keywords

  • albinism
  • Chediak-Higashi syndrome
  • CHS1/LYST gene
  • immunodeficiency
  • Oman

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Pediatrics, Perinatology, and Child Health

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