title: A Novel WASP Gene Mutation in a Chinese Boy with Wiskott-Aldrich Syndrome.
abstract: Wiskott-Aldrich syndrome (WAS) is a rare inherited X-linked recessive immunodeficiency disease characterized by eczema, thrombocytopenia, immune deficiency, and bloody diarrhea and is caused by WASP gene mutations. This study reports a case of WAS with a novel mutation. A newborn Chinese infant was admitted to the hospital because of intermittent bloody stools, recurrent infections, and persistent thrombocytopenia. Genetic analysis of the coding sequences and flanking splice sites of the WASP gene showed a novel WASP gene deletion mutation (1144delA) at exon 10. Family history showed that both his mother and aunt had a heterozygous genotype of the WASP gene. The infant died at the age of 4 months due to persistent thrombocytopenia and severe pneumonia. A novel WASP gene deletion (1144delA) at exon 10 was identified in a Chinese infant with WAS. This base deletion results in a frame-shift mutation of the gene for an early stop codon at amino acid 444.
authors.affiliation: Department of Neonatology, The First Hospital of Jilin University, Changchun, 130021 China.
authors.forename: Hui
authors.initials: H
authors.lastname: Wu
authors.affiliation: School of Biological and Agricultural Engineering, Jilin University, Changchun, 130021 China.
authors.forename: Cheng
authors.initials: C
authors.lastname: Hu
authors.affiliation: Department of Neonatology, The First Hospital of Jilin University, Changchun, 130021 China.
authors.forename: Dan
authors.initials: D
authors.lastname: Dang
authors.affiliation: The State Engineering Laboratory of AIDS Vaccine, College of Life Science, Jilin University, 2699 Qianjin Road, Changchun, 130021 China.
authors.forename: Ying-Jie
authors.initials: YJ
authors.lastname: Guo
keywords: Gene mutation; WASP gene; Wiskott–Aldrich syndrome