title: A novel WASP gene mutation in a Chinese boy with Wiskott-Aldrich syndrome.
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.
authors.affiliation: Department of Hematology, West China Hospital, Sichuan University, Chengdu, Sichuan, People's Republic of China.
authors.forename: Hongtao
authors.initials: H
authors.lastname: Yu
authors.forename: Ting
authors.initials: T
authors.lastname: Liu
authors.forename: Wentong
authors.initials: W
authors.lastname: Meng
authors.forename: Li
authors.initials: L
authors.lastname: Hou
mesh_terms: D044466:Asian People; D002675:Child, Preschool; D018388:Codon, Terminator; D005190:Family; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics*
chemical_list: D018388:Codon, Terminator; D051316:Wiskott-Aldrich Syndrome Protein