Rare Diseases Symptoms Automatic Extraction

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

[wiskott-aldrich syndrome]

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.

Diseases presenting "and a complete loss of intron 10 and exon 11" symptom

  • wiskott-aldrich syndrome

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