The genotype of the original Wiskott phenotype.
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.
Binder
Vera
V
Department of Hematology and Oncology, Dr. von Haunersches Children's Hospital, Ludwig Maximilians University, Munich, Germany.
Albert
Michael H
MH
Kabus
Maria
M
Bertone
Marko
M
Meindl
Alfons
A
Belohradsky
Bernd H
BH
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*
D012333:RNA, Messenger; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein