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

Vera Gulácsy, Beáta Soltész, Carmen Petrescu, Mihaela Bataneant, E. Gyimesi, Margit Serban, L. Máródi, B. Tóth

Research output: Article

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 - júl. 1 2015

Fingerprint

Wiskott-Aldrich Syndrome Protein
Exons
Nucleotides
Sequence Deletion
Introns
Genes
Adenine
DNA Sequence Analysis
Genome
Polymerase Chain Reaction
Proteins

ASJC Scopus subject areas

  • Hematology

Cite this

A novel large deletion and single nucleotide insertion in the Wiskott-Aldrich syndrome protein gene. / Gulácsy, Vera; Soltész, Beáta; Petrescu, Carmen; Bataneant, Mihaela; Gyimesi, E.; Serban, Margit; Máródi, L.; Tóth, B.

In: European Journal of Haematology, Vol. 95, No. 1, 01.07.2015, p. 93-98.

Research output: Article

Gulácsy, Vera ; Soltész, Beáta ; Petrescu, Carmen ; Bataneant, Mihaela ; Gyimesi, E. ; Serban, Margit ; Máródi, L. ; Tóth, B. / A novel large deletion and single nucleotide insertion in the Wiskott-Aldrich syndrome protein gene. In: European Journal of Haematology. 2015 ; Vol. 95, No. 1. pp. 93-98.
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AU - Gyimesi, E.

AU - Serban, Margit

AU - Máródi, L.

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