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

Vera Gulácsy, Beáta Soltész, Carmen Petrescu, Mihaela Bataneant, Edit Gyimesi, Margit Serban, László Maródi, Beáta Tóth

Research output: Contribution to journalArticle

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 inWAS 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 1kb 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.

Original languageEnglish
Pages (from-to)93-98
Number of pages6
JournalEuropean journal of haematology
Volume95
Issue number1
DOIs
Publication statusPublished - Jul 1 2015

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Keywords

  • Gross deletions
  • InDel
  • WAS gene
  • Wiskott-Aldrich syndrome

ASJC Scopus subject areas

  • Hematology

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