Skip to main content

A Novel Mutation W252X in the WAS Gene in a Korean Patient with Wiskott-Aldrich Syndrome

International Journal of Hematology volume 83, pages 426–428 (2006)Cite this article

Abstract

Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disorder characterized by recurrent infection, eczema, and microthrombocytopenia. WAS is inherited in an X-linked recessive pattern, and various mutations in the WAS gene on the X chromosome are the genetic basis of WAS. A 7-month-old Korean boy presented with recurrent bloody diarrhea, eczema, and persistent thrombocytopenia with small platelets. Direct sequence analysis of the entire coding region of the WAS gene showed a novel nonsense mutation with a G-to-A substitution at the nucleotide position 756 on exon 8, leading to a premature termination at codon 252 (c.756G>A; p.W252X). Family study revealed that neither of the parents had the mutation, indicating the de novo occurrence of the mutation.

This is a preview of subscription content, access via your institution.

Access options

Buy single article

Instant access to the full article PDF.

43,34 €

Price includes VAT (Finland)
Tax calculation will be finalised during checkout.

References

  1. Wiskott A. Familiarer, angeobren Morbus Werlhofi? [in German]. Monatschrift Kinderheil. 1937;68:212–216.

    Google Scholar 

  2. Derry JM, Ochs HD, Francke U. Isolation of a novel gene mutated in Wiskott-Aldrich syndrome. Cell. 1994;78:635–644.

    Article  CAS  Google Scholar 

  3. Burns S, Cory GO, Vainchenker W, Thrasher AJ. Mechanisms of WASp-mediated hematologic and immunologic disease. Blood. 2004;104:3454–3462.

    Article  CAS  Google Scholar 

  4. Imai K, Nonoyama S. Database of published WAS gene mutations, updated 2004. Apr.29. http://homepage.mac.com/kohsukeimai/wasp/WASPbase.html. Accessed April 5, 2006.

  5. Jin Y, Mazza C, Christie JR, et al. Mutations of the Wiskott-Aldrich Syndrome Protein (WASP): hotspots, effect on transcription, and translation and phenotype/genotype correlation. Blood. 2004;104:4010–4019.

    Article  CAS  Google Scholar 

  6. den Dunnen, J. Nomenclature for the description of sequence variations, updated September 23, 2005. http://www.genomic.unimelb. edu.au/mdi/mutnomen/. Accessed April 5, 2006.

  7. Imai K, Morio T, Zhu Y, et al. Clinical course of patients with WASP gene mutations. Blood. 2004;103:456–464.

    Article  CAS  Google Scholar 

  8. Frischmeyer PA, Dietz HC. Nonsense-mediated mRNA decay in health and disease. Hum Mol Genet. 1999;8:1893–1900.

    Article  CAS  Google Scholar 

  9. Thompson LJ, Lalloz MR, Layton DM. Unique and recurrent WAS gene mutations in Wiskott-Aldrich syndrome and X-linked thrombocytopenia. Blood Cells Mol Dis. 1999;25:218–226.

    Article  CAS  Google Scholar 

  10. Jo EK, Futatani T, Kanegane H, et al. Mutational analysis of the WASP gene in 2 Korean families with Wiskott-Aldrich syndrome. Int J Hematol. 2003;78:40–44.

    Article  CAS  Google Scholar 

  11. Kim MK, Kim ES, Kim DS, et al. Two novel mutations of Wiskott-Aldrich syndrome: the molecular prediction of interaction between the mutated WASP L101P with WASP-interacting protein by molecular modeling. Biochim Biophys Acta. 2004;1690:134–140.

    Article  CAS  Google Scholar 

Download references

Author information

Affiliations

  1. Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, 50 Ilwon-dong, Gangnam-gu, 135-710, Seoul, Korea

    Hee-Jin Kim, Eun-Hyung Yoo, Chang-Seok Ki, Jong-Won Kim & Sun-Hee Kim

  2. Departments of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea

    Geon-Hee Yoo & Hong-Hoe Koo

Authors
  1. Hee-Jin Kim
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Eun-Hyung Yoo
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Chang-Seok Ki
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Geon-Hee Yoo
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Hong-Hoe Koo
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Jong-Won Kim
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Sun-Hee Kim
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Sun-Hee Kim.

About this article

Cite this article

Kim, HJ., Yoo, EH., Ki, CS. et al. A Novel Mutation W252X in the WAS Gene in a Korean Patient with Wiskott-Aldrich Syndrome. Int J Hematol 83, 426–428 (2006). https://doi.org/10.1532/IJH97.A30513

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1532/IJH97.A30513

Key words

  • Wiskott-Aldrich syndrome
  • WAS gene
  • Mutation
  • Korea