International Journal of Hematology

, Volume 83, Issue 5, pp 426–428 | Cite as

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

  • Hee-Jin Kim
  • Eun-Hyung Yoo
  • Chang-Seok Ki
  • Geon-Hee Yoo
  • Hong-Hoe Koo
  • Jong-Won Kim
  • Sun-Hee Kim
Case Report

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.

Key words

Wiskott-Aldrich syndrome WAS gene Mutation Korea 

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Copyright information

© The Japanese Society of Hematology 2006

Authors and Affiliations

  • Hee-Jin Kim
    • 1
  • Eun-Hyung Yoo
    • 1
  • Chang-Seok Ki
    • 1
  • Geon-Hee Yoo
    • 2
  • Hong-Hoe Koo
    • 2
  • Jong-Won Kim
    • 1
  • Sun-Hee Kim
    • 1
  1. 1.Department of Laboratory MedicineSamsung Medical Center, Sungkyunkwan University School of MedicineSeoulKorea
  2. 2.Departments of PediatricsSamsung Medical Center, Sungkyunkwan University School of MedicineSeoulKorea

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