title: Mutational analysis of the WASP gene in 2 Korean families with Wiskott-Aldrich syndrome.
abstract: Wiskott-Aldrich syndrome (WAS), an X-linked disorder characterized by thrombocytopenia with undersized platelets, eczema, and immune deficiency, is caused by mutations in the WASP gene. In this study, we investigated WASP gene mutations and WASP protein expression in 2 unrelated Korean WAS patients. Flow cytometry was used to evaluate WASP expression in lymphocytes. Two previously reported nonsense mutations (Arg211stop and Arg13stop) were identified in this study, a finding that suggested these codons are mutational hotspots. Both mothers showed normal WASP expression in flow cytometric analysis, even though they had heterozygotic patterning, which is indicative of carrier status. Furthermore, an X-chromosome inactivation assay revealed that these carrier mothers had skewed X inactivation. To our knowledge, this is the first report on molecular diagnosis of WAS in Korea. In addition, we detected normal WASP expression in lymphocytes from carrier mothers, a finding consistent with the data on skewed X inactivation.
authors.affiliation: Department of Microbiology, College of Medicine, Chungnam National University, Daejeon, Korea.
authors.forename: Eun-Kyeong
authors.initials: EK
authors.lastname: Jo
authors.forename: Takeshi
authors.initials: T
authors.lastname: Futatani
authors.forename: Hirokazu
authors.initials: H
authors.lastname: Kanegane
authors.forename: Takeo
authors.initials: T
authors.lastname: Kubota
authors.forename: Young-Ho
authors.initials: YH
authors.lastname: Lee
authors.forename: Jin-A
authors.initials: JA
authors.lastname: Jung
authors.forename: Chang-Hwa
authors.initials: CH
authors.lastname: Song
authors.forename: Jeong-Kyu
authors.initials: JK
authors.lastname: Park
authors.forename: Shigeaki
authors.initials: S
authors.lastname: Nonoyama
authors.forename: Toshio
authors.initials: T
authors.lastname: Miyawaki
mesh_terms: D018389:Codon, Nonsense; D004252:DNA Mutational Analysis; D004303:Dosage Compensation, Genetic; D005192:Family Health; D005434:Flow Cytometry; D006801:Humans; D007723:Korea; D008214:Lymphocytes / Q000737:chemistry; D008297:Male; D010375:Pedigree; D014176:Protein Biosynthesis; D011506:Proteins / Q000235:genetics*; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein
chemical_list: D018389:Codon, Nonsense; D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein