Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome
- PMID: 15896657
- DOI: 10.1016/j.ymgme.2005.02.011
Two novel CHS1 (LYST) mutations: clinical correlations in an infant with Chediak-Higashi syndrome
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 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.
Similar articles
-
Chediak-Higashi syndrome.Curr Opin Hematol. 2008 Jan;15(1):22-9. doi: 10.1097/MOH.0b013e3282f2bcce. Curr Opin Hematol. 2008. PMID: 18043242 Review.
-
Chediak-Higashi syndrome: novel mutation of the CHS1/LYST gene in 3 Omani patients.J Pediatr Hematol Oncol. 2014 May;36(4):e248-50. doi: 10.1097/MPH.0000000000000025. J Pediatr Hematol Oncol. 2014. PMID: 24072239
-
A novel single point mutation of the LYST gene in two siblings with different phenotypic features of Chediak Higashi syndrome.Pediatr Blood Cancer. 2011 Jul 1;56(7):1136-9. doi: 10.1002/pbc.22878. Epub 2011 Feb 4. Pediatr Blood Cancer. 2011. PMID: 21488161
-
Chediak-Higashi syndrome: description of two novel homozygous missense mutations causing divergent clinical phenotype.Eur J Haematol. 2014 Jan;92(1):49-58. doi: 10.1111/ejh.12203. Epub 2013 Oct 24. Eur J Haematol. 2014. PMID: 24112114
-
Clinical, molecular, and cell biological aspects of Chediak-Higashi syndrome.Mol Genet Metab. 1999 Oct;68(2):283-303. doi: 10.1006/mgme.1999.2927. Mol Genet Metab. 1999. PMID: 10527680 Review.
Cited by
-
Tom1l2 hypomorphic mice exhibit increased incidence of infections and tumors and abnormal immunologic response.Mamm Genome. 2008 Apr;19(4):246-62. doi: 10.1007/s00335-008-9100-6. Epub 2008 Mar 15. Mamm Genome. 2008. PMID: 18343975
-
Atypical Chédiak-Higashi syndrome with attenuated phenotype: three adult siblings homozygous for a novel LYST deletion and with neurodegenerative disease.Orphanet J Rare Dis. 2013 Mar 22;8:46. doi: 10.1186/1750-1172-8-46. Orphanet J Rare Dis. 2013. PMID: 23521865 Free PMC article.
-
Towards the targeted management of Chediak-Higashi syndrome.Orphanet J Rare Dis. 2014 Aug 18;9:132. doi: 10.1186/s13023-014-0132-6. Orphanet J Rare Dis. 2014. PMID: 25129365 Free PMC article. Review.
-
LPS-responsive beige-like anchor (LRBA) gene mutation in a family with inflammatory bowel disease and combined immunodeficiency.J Allergy Clin Immunol. 2012 Aug;130(2):481-8.e2. doi: 10.1016/j.jaci.2012.05.043. Epub 2012 Jun 19. J Allergy Clin Immunol. 2012. PMID: 22721650 Free PMC article.
-
Two novel mutations identified in an african-american child with chediak-higashi syndrome.Case Rep Med. 2010;2010:967535. doi: 10.1155/2010/967535. Epub 2010 Mar 24. Case Rep Med. 2010. PMID: 20368792 Free PMC article.
Publication types
MeSH terms
Substances
Associated data
- Actions
LinkOut - more resources
Full Text Sources
Research Materials