A novel large deletion and single nucleotide insertion in the Wiskott–Aldrich syndrome protein gene. (18th October 2014)

• Record Type: Journal Article
• Authors: Gulácsy, Vera; Soltész, Beáta; Petrescu, Carmen; Bataneant, Mihaela; Gyimesi, Edit; Serban, Margit; Maródi, László; Tóth, Beáta
• Is Part Of: European journal of haematology. Volume 95:Number 1(2015:Jul.)
• Page Start: 93
• Page End: 98
• Publication Date: 2014-10-18
• Subjects: Hematology -- Periodicals; Blood -- Diseases -- Periodicals; Blood -- Periodicals; 616.15005
• DOI: 10.1111/ejh.12424
• Languages: English
• ISSNs: 0902-4441

Abstract

<abstract abstract-type="main" id="ejh12424-abs-0001"> <title>Abstract</title> <p>Deletion mutations of <italic>WAS</italic> 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 <italic>WAS</italic> 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 <italic>WAS</italic> resulted in partial loss of exon 10 and intron 11, and a complete loss of intron 10 and exon 11.</p> </abstract>