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A novel WASP gene mutation in a Chinese boy with Wiskott–Aldrich syndrome

International Journal of Hematology volume 92, pages 271–275 (2010)Cite this article

Abstract

Wiskott–Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by thrombocytopenia, small platelets, eczema, increased susceptibility to infection, and immunodeficiency. Mutations of the Wiskott–Aldrich syndrome protein (WASP) gene are responsible for this severe congenital disease. In this study, we report on a 2-year-old Chinese boy who presented with classic clinical WAS manifestations. By direct sequencing of cDNA and genomic DNA of the patient, we identified a novel mutation: the first nucleotide in exon 8 (G) had been deleted (769delG). This mutation results in two kinds of aberrant mRNA with abnormal splicing and causes frameshift and a stop codon at amino acid 260. Western blotting demonstrated a 28-kDa truncated WAS protein. A maternal study revealed that his mother had a heterozygous genotype, but showed normal WASP expression.

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Acknowledgments

The authors would like to thank Dr. Qiang Li and Dr. Xiaoxi Lu from the Department of Pediatrics of the West China Second Hospital, Sichuan University, who provided clinical data on the patient.

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Affiliations

  1. Department of Hematology, Hematology Research Laboratory, West China Hospital, Sichuan University, Chengdu, 610041, Sichuan, People’s Republic of China

    Hongtao Yu, Ting Liu, Wentong Meng & Li Hou

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  1. Hongtao Yu
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  2. Ting Liu
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  3. Wentong Meng
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  4. Li Hou
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Correspondence to Ting Liu.

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Yu, H., Liu, T., Meng, W. et al. A novel WASP gene mutation in a Chinese boy with Wiskott–Aldrich syndrome. Int J Hematol 92, 271–275 (2010). https://doi.org/10.1007/s12185-010-0644-3

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  • DOI: https://doi.org/10.1007/s12185-010-0644-3

Keywords

  • Wiskott–Aldrich syndrome
  • WAS gene
  • Mutation
  • Chinese