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