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

作者：Gulacsy Vera; Soltesz Beata; Petrescu Carmen; Bataneant Mihaela; Gyimesi Edit; Serban Margit; Marodi Laszlo; Toth Beata^*

来源：European Journal of Haematology, 2015, 95(1): 93-98.

DOI：10.1111/ejh.12424

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

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.

• 出版日期2015-7