title: Novel WASP mutation in a patient with Wiskott-Aldrich syndrome: Case report and review of the literature.
abstract: BACKGROUND
  The Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive immunodeficiency disorder, caused by mutations in the WAS protein (WASP) gene and characterised by thrombocytopenia, small platelets, eczema, and recurrent infections associated with increased risk of autoimmunity and malignancy disorders. The gene for WAS has been mapped to the short arm of the X chromosome at Xp 11.22-23 and early detection of patients and diagnosis of new mutation might reduce related complications and increase their life expectancy.
  
  
  RESULTS
  We found a novel mutation by sequence analysis of genomic DNA coding of a 9-month old boy suffering from WAS. The mutation was insertion G in exon 10 of WASP gene. The consequence of the G insertion is a premature stop immediately at amino acid 335 (N335X or p.G334GfsX1) and truncated protein.
  
  
  CONCLUSIONS
  The mutation analysis is helpful for the diagnosis of WAS patients and also expanding the spectrum of WASP mutations for carrier detection and prenatal diagnosis.
authors.affiliation: Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Eghbali
authors.affiliation: Division of Pediatric Immunology and Allergy, Children's Hospital, Tabriz University Medical Sciences, Tabriz, Iran.
authors.forename: M
authors.initials: M
authors.lastname: Sadeghi-Shabestari
authors.affiliation: Molecular Immunology Research Center, Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran.
authors.forename: F
authors.initials: F
authors.lastname: Najmi Varzaneh
authors.affiliation: Molecular Immunology Research Center, Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
authors.forename: A
authors.initials: A
authors.lastname: Zare Bidoki
authors.affiliation: Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Molecular Immunology Research Center, Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. Electronic address: rezaei_nima@tums.ac.ir.
authors.forename: N
authors.initials: N
authors.lastname: Rezaei
mesh_terms: D004252:DNA Mutational Analysis; D004485:Eczema / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D007223:Infant; D007492:Iran; D008297:Male; D016254:Mutagenesis, Insertional / Q000235:genetics*; D010375:Pedigree; D013921:Thrombocytopenia / Q000235:genetics*; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein / Q000235:genetics*
chemical_list: D051316:Wiskott-Aldrich Syndrome Protein
keywords: Eczema; Novel mutation; Recurrent infection; Thrombocytopenia; Wiskott–Aldrich syndrome