A novel large deletion and single nucleotide insertion in the Wiskott-Aldrich syndrome protein gene

Eur J Haematol. 2015 Jul;95(1):93-8. doi: 10.1111/ejh.12424. Epub 2014 Oct 18.

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.

Keywords: InDel; WAS gene; Wiskott-Aldrich syndrome; gross deletions.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Base Sequence
  • Exons*
  • Humans
  • INDEL Mutation*
  • Infant
  • Introns
  • Leukocytes, Mononuclear / metabolism
  • Leukocytes, Mononuclear / pathology
  • Male
  • Molecular Sequence Data
  • Polymerase Chain Reaction
  • Sequence Analysis, DNA
  • Wiskott-Aldrich Syndrome / diagnosis*
  • Wiskott-Aldrich Syndrome / genetics*
  • Wiskott-Aldrich Syndrome / metabolism
  • Wiskott-Aldrich Syndrome / pathology
  • Wiskott-Aldrich Syndrome Protein / deficiency
  • Wiskott-Aldrich Syndrome Protein / genetics*

Substances

  • WAS protein, human
  • Wiskott-Aldrich Syndrome Protein