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

1 Citation (Scopus)

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

Keywords

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

ASJC Scopus subject areas

  • Hematology

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