Whole Wiskott‑Aldrich syndrome protein gene deletion identified by high throughput sequencing

He,Xiangling; Zou,Runying; Zhang,Bing; You,Yalan; Yang,Yang; Tian,Xin

doi:10.3892/mmr.2017.7416

Whole Wiskott‑Aldrich syndrome protein gene deletion identified by high throughput sequencing

Authors:
- Xiangling He
- Runying Zou
- Bing Zhang
- Yalan You
- Yang Yang
- Xin Tian
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Affiliations: Department of Hematology and Oncology of Children's Medical Center, Hunan Provincial People's Hospital/The First Affiliated Hospital of Hunan Normal University, Changsha, Hunan 410005, P.R. China
Published online on: August 31, 2017 https://doi.org/10.3892/mmr.2017.7416
Pages: 6526-6531
Copyright: © He et al. This is an open access article distributed under the terms of Creative Commons Attribution License.

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Abstract

Wiskott‑Aldrich syndrome (WAS) is a rare X‑linked recessive immunodeficiency disorder, characterized by thrombocytopenia, small platelets, eczema and recurrent infections associated with increased risk of autoimmunity and malignancy disorders. Mutations in the WAS protein (WASP) gene are responsible for WAS. To date, WASP mutations, including missense/nonsense, splicing, small deletions, small insertions, gross deletions, and gross insertions have been identified in patients with WAS. In addition, WASP‑interacting proteins are suspected in patients with clinical features of WAS, in whom the WASP gene sequence and mRNA levels are normal. The present study aimed to investigate the application of next generation sequencing in definitive diagnosis and clinical therapy for WAS. A 5 month‑old child with WAS who displayed symptoms of thrombocytopenia was examined. Whole exome sequence analysis of genomic DNA showed that the coverage and depth of WASP were extremely low. Quantitative polymerase chain reaction indicated total WASP gene deletion in the proband. In conclusion, high throughput sequencing is useful for the verification of WAS on the genetic profile, and has implications for family planning guidance and establishment of clinical programs.

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