A novel mutation W252X in the WAS gene in a Korean patient with Wiskott-Aldrich syndrome.
Wiskott-Aldrich syndrome (WAS) is a primary immunodeficiency disorder characterized by recurrent infection, eczema, and microthrombocytopenia. WAS is inherited in an X-linked recessive pattern, and various mutations in the WAS gene on the X chromosome are the genetic basis of WAS. A 7-month-old Korean boy presented with recurrent bloody diarrhea, eczema, and persistent thrombocytopenia with small platelets. Direct sequence analysis of the entire coding region of the WAS gene showed a novel nonsense mutation with a G-to-A substitution at the nucleotide position 756 on exon 8, leading to a premature termination at codon 252 (c.756G>A; p.W252X). Family study revealed that neither of the parents had the mutation, indicating the de novo occurrence of the mutation.
Kim
Hee-Jin
HJ
Department of Laboratory Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Yoo
Eun-Hyung
EH
Ki
Chang-Seok
CS
Yoo
Geon-Hee
GH
Koo
Hong-Hoe
HH
Kim
Jong-Won
JW
Kim
Sun-Hee
SH
D044466:Asian People; D041321:Chromosomes, Human, X / Q000235:genetics*; D004252:DNA Mutational Analysis / Q000379:methods; D006801:Humans; D007223:Infant; D008297:Male; D017354:Point Mutation; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics*
D051316:Wiskott-Aldrich Syndrome Protein