title: The genotype of the original Wiskott phenotype.
abstract: The Wiskott-Aldrich syndrome is an X-linked hereditary disorder associated with combined immunodeficiency, thrombocytopenia, small platelets, eczema, and increased susceptibility to autoimmune disorders and cancers. It is caused by mutations in the gene (WAS) for the Wiskott-Aldrich syndrome protein (WASP). We investigated family members of the patients originally described by Wiskott in 1937 and identified a new frame shift mutation in exon 1 of WAS. This mutation is likely to be the hypothesized genotype that caused the severe form of the Wiskott-Aldrich syndrome in the three brothers described by Wiskott.
authors.affiliation: Department of Hematology and Oncology, Dr. von Haunersches Children's Hospital, Ludwig Maximilians University, Munich, Germany.
authors.forename: Vera
authors.initials: V
authors.lastname: Binder
authors.forename: Michael H
authors.initials: MH
authors.lastname: Albert
authors.forename: Maria
authors.initials: M
authors.lastname: Kabus
authors.forename: Marko
authors.initials: M
authors.lastname: Bertone
authors.forename: Alfons
authors.initials: A
authors.lastname: Meindl
authors.forename: Bernd H
authors.initials: BH
authors.lastname: Belohradsky
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D004252:DNA Mutational Analysis; D005260:Female; D016368:Frameshift Mutation; D005838:Genotype; D018380:Hematopoietic Stem Cell Transplantation; D006579:Heterozygote; D006801:Humans; D008297:Male; D010375:Pedigree; D012333:RNA, Messenger / Q000032:analysis; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics* / Q000628:therapy; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics*
chemical_list: D012333:RNA, Messenger; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein