title: A novel large deletion and single nucleotide insertion in the Wiskott-Aldrich syndrome protein gene.
abstract: Deletion mutations of WAS are relatively rare and the precise localization of large deletions in the genome has rarely been described in previous studies. We report here a 5-month-old boy with a large deletion mutation in WAS that completely abolished protein expression. To localize the deletion, a 2816-bp-length sequence that spans between exons 9 and 12 was amplified. PCR amplification of the patient's sample revealed a single band of about 1 kb in contrast to the 2816-bp-amplicon in the control. Genomic DNA sequencing of the patient revealed a 1595-bp-deletion and an adenine insertion (g.5247_6841del1595insA). This large deletion of WAS resulted in partial loss of exon 10 and intron 11, and a complete loss of intron 10 and exon 11.
authors.affiliation: Department of Infectious Diseases and Pediatric Immunology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Vera
authors.initials: V
authors.lastname: Gulácsy
authors.affiliation: Department of Infectious Diseases and Pediatric Immunology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Beáta
authors.initials: B
authors.lastname: Soltész
authors.affiliation: Department of Public Health, School of Medicine, V. Babeş University of Medicine & Pharmacy Timişoara, Timişoara, Romania.
authors.forename: Carmen
authors.initials: C
authors.lastname: Petrescu
authors.affiliation: Department of Public Health, School of Medicine, V. Babeş University of Medicine & Pharmacy Timişoara, Timişoara, Romania.
authors.forename: Mihaela
authors.initials: M
authors.lastname: Bataneant
authors.affiliation: Division of Clinical Immunology, Institute of Internal Medicine, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Edit
authors.initials: E
authors.lastname: Gyimesi
authors.affiliation: Department of Public Health, School of Medicine, V. Babeş University of Medicine & Pharmacy Timişoara, Timişoara, Romania.
authors.forename: Margit
authors.initials: M
authors.lastname: Serban
authors.affiliation: Department of Infectious Diseases and Pediatric Immunology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: László
authors.initials: L
authors.lastname: Maródi
authors.affiliation: Department of Infectious Diseases and Pediatric Immunology, Faculty of Medicine, University of Debrecen, Debrecen, Hungary.
authors.forename: Beáta
authors.initials: B
authors.lastname: Tóth
mesh_terms: D001483:Base Sequence; D005091:Exons; D006801:Humans; D054643:INDEL Mutation; D007223:Infant; D007438:Introns; D007963:Leukocytes, Mononuclear / Q000378:metabolism / Q000473:pathology; D008297:Male; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D014923:Wiskott-Aldrich Syndrome / Q000175:diagnosis* / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D051316:Wiskott-Aldrich Syndrome Protein / Q000172:deficiency / Q000235:genetics*
chemical_list: C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein
keywords: InDel; WAS gene; Wiskott-Aldrich syndrome; gross deletions